Part 6, Reference for Chapter 72: Genetic Disorders of Collagen, Elastin and Dermal Matrix
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Ehlers–Danlos syndrome
- 1 International nosology of heritable disorders of connective tissue, Berlin. Am J Med Genet 1988;29:581–4. Cross Ref link Pubmed link , , , et al.
- 2 Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998;77:31–7. Cross Ref link Pubmed link , , , et al.
- 3 The Ehlers–Danlos syndrome. In: Royce PM, Steinmann B, eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley–Liss, 2002:431–523. , , .
- 4 emedicine.medscape.com/article/943567‐overview (last accessed January 2015). . Genetics of Ehlers–Danlos Syndrome. Treatment and Management
- 5 Disorders of collagen biosynthesis and structure. In: Scriver C, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 2nd edn. Edinburgh: Churchill Livingstone, 2001:1065–81. .
- 6 A case of Ehlers–Danlos syndrome occurring with Marfan's syndrome. Clin Exp Dermatol 1977;2:117–20. Cross Ref link Pubmed link , .
- 7 Ehlers–Danlos syndrome with renal tubular acidosis and medullary sponge kidney. J Pediatr 1967;71:107–13. Cross Ref link Pubmed link , .
- 8 Collagen deficiency and ruptured cerebral aneurysms. J Neurosurg 1983;59:16–20. Cross Ref link Pubmed link , , , et al.
- 9 Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology 1993;43:2652–8. Cross Ref link Pubmed link , , , et al.
- 10 De The Ehlers–Danlos syndrome, a disorder with many faces. Clin Genet 2012;82:1–11. Cross Ref link Pubmed link , .
- 11 Cardiovascular aspects of the Ehlers–Danlos syndrome. Circulation 1965;32:602–7. Cross Ref link Pubmed link , , , et al.
- 12 Spontaneous arterial perforation: the Ehlers–Danlos specter. J Vasc Surg 1987;5:248–55. Cross Ref link Pubmed link , , .
- 13 Clinical and ultrastructural heterogeneity of type IV Ehlers–Danlos syndrome. Hum Genet 1979;47:141–50. Cross Ref link Pubmed link , , , et al.
- 14 L'acrogéria est‐elle une maladie du fibroblasts? Dermatologica 1974;148:28–38. Cross Ref link Pubmed link , .
- 15 Functional and ultrastructural abnormalities of platelets in Ehlers–Danlos syndrome. Ann Intern Med 1965;63:249–54. Cross Ref link Pubmed link , , .
- 16 Platelet and coagulation studies in Ehlers–Danlos syndrome. Br J Dermatol 1991;125:155–63. Cross Ref link Pubmed link , , , et al.
- 17 Skin is a window on heritable disorders of connective tissue. Am J Med Genet 1989;34:105–21. Cross Ref link Pubmed link , .
- 18 Loss‐of‐function mutations of CHST14 in a new type of Ehlers–Danlos syndrome. Hum Mutat 2010;31:966–74. Cross Ref link Pubmed link , , , et al.
- 19 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat 2012;33:1485–93. Cross Ref link Pubmed link , , , et al.
- 20 Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis 2013;8:58. Cross Ref link Pubmed link , , , et al.
- 21 COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996;135:163–81. Cross Ref link Pubmed link , , , et al.
- 22 Ehlers–Danlos syndrome type IV. A multi‐exon deletion in one of the two COL3A1 alleles affecting structure, stability and processing of type III procollagen. J Biol Chem 1988;263:6226–32. Pubmed link , , , et al.
- 23 Ehlers–Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 1994;103:S47–52. Cross Ref link .
- 24 Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673–80. Cross Ref link Pubmed link , , , .
- 25 COL3A1 haploinsufficiency results in a variety of Ehlers–Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med 2011;13:717–22. Cross Ref link Pubmed link , , , .
- 26 Ascorbate regulation of collagen biosynthesis in Ehlers–Danlos syndrome type VI. Metabolism 1987;36:687–91. Cross Ref link Pubmed link , , , et al.
- 27 Evidence for a structural mutation of procollagen type I in a patient with Ehlers–Danlos syndrome type VII. J Biol Chem 1980;255:8887–93. Pubmed link , , , et al.
- 28 Ehlers–Danlos syndrome type VII B. Deletion of 18 amino acids comprising the N‐telopeptide region of a proα2(I) chain. J Biol Chem 1987;262:16 376–85. , , , et al.
- 29 Ehlers–Danlos syndrome type VII B. Incomplete cleavage of abnormal type I procollagen by N‐proteinase in vitro results in the formation of copolymers of collagen and partially cleared pNcollagen that are near circular in cross‐section. J Biol Chem 1992;267:9093–100. Pubmed link , , , et al.
- 30 Characterization of a COL1A1 splicing defect in a case of Ehlers–Danlos syndrome type VII. Further evidence of molecular homogeneity. Am J Hum Genet 1991;49:400–6. Pubmed link , , , et al.
- 31 The clinical features of Ehlers–Danlos syndrome type VII due to a deletion of 21 amino acids from the pro‐α1(I) chain of type I procollagen. J Med Genet 1987;24:698–701. Cross Ref link Pubmed link , , .
- 32 Human Ehlers–Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen I N‐proteinase gene. Am J Hum Genet 1999;65:308–17. Cross Ref link Pubmed link , , , et al.
- 33 The molecular genetics of the Ehlers–Danlos syndrome. Clin Exp Dermatol 1999;24:99–106. Cross Ref link Pubmed link .
- 34 Cutis laxa complicating Ehlers–Danlos syndrome type II. Clin Exp Dermatol 1996;21:135–7. Cross Ref link Pubmed link , , .
- 35 3rd edn. London: Springer‐Verlag, 1999:147–77. , , . Hypermobility of Joints,
- 36 Ehlers–Danlos syndrome with surgical repair of penetration of diaphragm and torsion of stomach. J R Soc Med 1979;72:781–3. Pubmed link .
- 37 Giant bladder diverticulum in Ehlers–Danlos syndrome type I causing outflow obstruction. Clin Exp Dermatol 1998;23:109–12. Cross Ref link Pubmed link , , , .
- 38 The Ehlers–Danlos syndrome: recognition, characterization, and importance of a milder variant of the classic form. J Am Acad Dermatol 1998;19:656–66. Cross Ref link , , .
- 39 Prediction of poor outcome of cutaneous surgery. Lancet 1989;ii:1109. Pubmed link , , .
- 40 The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777–9. Pubmed link , , , et al.
- 41 Articular mobility in an African population. Ann Rheum Dis 1973;32:413–18. Cross Ref link Pubmed link , , .
- 42 Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers–Danlos syndrome. Am J Hum Genet 2003;73:214–17. Cross Ref link Pubmed link , , , et al.
- 43 A family with Ehlers–Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine in type III collagen. Hum Mol Genet 1994;3:1617–20. Cross Ref link Pubmed link , , , et al.
- 44 Coxa saltans in patients with Ehlers–Danlos syndrome type III. Scand J Rheumatol 1988;17:229–30. Cross Ref link Pubmed link , , .
- 45 Chronic pain is a manifestation of the Ehlers–Danlos syndrome. J Pain Symptom Manage 1997;14:88–93. Cross Ref link Pubmed link , , , et al.
- 46 Dysautonomia in the joint hypermobility syndrome. Am J Med 2003;115:33–40. Cross Ref link Pubmed link , , , et al.
- 47 A prospective evaluation of undiagnosed joint hypermobility syndrome in patients with gastrointestinal symptoms. Clin Gastroenterol Hepatol 2014;12:1680–7. Cross Ref link Pubmed link , , , et al.
- 48 Local anaesthetic failure in joint hypermobility syndrome. J R Soc Med 2005 Feb;98(2):84–5. Cross Ref link Pubmed link , , , .
- 49 Ehlers–Danlos type IV mimicking non‐accidental injury in a child. Br J Dermatol 1984;111:341–5. Cross Ref link Pubmed link , , , et al.
- 50 Clinical presentations of Ehlers–Danlos syndrome type IV. Arch Dis Child 1988;63:1016–25. Cross Ref link Pubmed link , , , et al.
- 51 Ehlers–Danlos syndrome during pregnancy. A case report and review of the literature. Obstet Gynecol Surv 1981;36:277–81. Cross Ref link Pubmed link , , .
- 52 Elastosis perforans serpiginosa and associated disorders. Clin Exp Dermatol 2001;26:521–4. Cross Ref link Pubmed link , , , et al.
- 53 X‐linked Ehlers–Danlos syndrome type V. The next generation. Clin Genet 1985;27:472–8. Cross Ref link Pubmed link , .
- 54 Cross‐linking of collagen in the X‐linked Ehlers–Danlos type V. Biochem Biophys Res Commun 1979;88:281–7. Cross Ref link Pubmed link , , .
- 55 Lysyl oxidase deficiency in Ehlers–Danlos syndrome type V. Connect Tissue Res 1975;3:38–53. , , , et al.
- 56 Ehlers–Danlos syndrome type VI. Collagen type specificity of defective lysyl hydroxylation in various tissues. J Invest Dermatol 1984;83:161–5. Cross Ref link Pubmed link , , , et al.
- 57 A heritable disorder of connective tissue. Hydroxylysine‐deficient collagen disease. N Engl J Med 1972;266:1013–20. Cross Ref link , , , et al.
- 58 Hydroxylysine‐deficient collagen in a patient with a form of the Ehlers–Danlos syndrome. J Bone Joint Surg Am 1974;56:1228–34. Pubmed link , , , et al.
- 59 Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers‐Danlos syndrome type VI. Molec Genet Metab 2000;71:212–24. Cross Ref link Pubmed link , .
- 60 Collagen biosynthesis and isomorphism in a case of Ehlers–Danlos syndrome type VI. Arch Dermatol Res 1987;279:303–7. Cross Ref link Pubmed link , , , et al.
- 61 Reducible cross‐links in hydroxylysine‐deficient collagens of a heritable disorder of connective tissue. Proc Natl Acad Sci USA 1972;69:2594–8. Cross Ref link Pubmed link , .
- 62 Urinary pyridinoline cross‐links in Ehlers–Danlos syndrome type VI. Am J Hum Genet 1995;57:1505–8. Pubmed link , , .
- 63 Ehlers–Danlos syndrome type VI; clinical manifestation of collagen lysyl hydroxylase deficiency. J Pediatr 1989;115:405–9. Cross Ref link Pubmed link , , .
- 64 The Ehlers–Danlos syndrome. Adv Exp Med Biol 2014;802:129–43. Cross Ref link Pubmed link ,
- 65 Musculocontractural Ehlers–Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase 1 encoding CHST14 gene. Hum Mutat 2010 Nov;31(11):1233–9. Cross Ref link Pubmed link , , , et al.
- 66 A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations. Am J Med Genet A 2010;152A:1333–46. Pubmed link , , , et al.
- 67 Loss‐of‐function mutations of CHST14 in a new type of Ehlers–Danlos syndrome. Hum Mutat 2010;31:966–74. Cross Ref link Pubmed link , , , et al.
- 68 Spondylocheiro dysplastic form of the Ehlers–Danlos syndrome – an autosomal‐recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 2008;82:1290–305. Cross Ref link Pubmed link , , , et al.
- 69 Mutations in FKBP14 cause a variant of Ehlers–Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet 2012;90:201–16. Cross Ref link Pubmed link , , , et al.
- 70 Ehlers–Danlos arthrochalasia type (VIIA‐B) – expanding the phenotype: from prenatal life through adulthood. Clin Genet 2012;82:121–30. Cross Ref link Pubmed link , , , et al.
- 71 Total absence of the alpha‐2(I) chain of collagen type I causes a rare form of Ehlers‐Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet 2006;43:e36 Cross Ref link Pubmed link , , , et al.
- 72 Human dermatosparaxis: a form of Ehlers–Danlos syndrome that results from failure to remove the amino‐terminal propeptide of type I procollagen. Am J Hum Genet 1992;51:235–44. Pubmed link , , , et al.
- 73 Initial observations of human dermatosparaxis: Ehlers–Danlos syndrome type VII C. J Pediatr 1992;121:558–64. Cross Ref link Pubmed link , , .
- 74 Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet 1992;1:214–17. Cross Ref link Pubmed link , , , et al.
- 75 Ehlers–Danlos type VII. Phenotype and genotype. Arch Dermatol Res 1994;286:425–8. Cross Ref link Pubmed link , , , et al.
- 76 The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A 2004 Nov 15;131(1):18–28. Cross Ref link Pubmed link , , .
- 77 Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC. Am J Med Genet A 2008;146A:3054–7. Cross Ref link Pubmed link , , , et al.
- 78 Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. Am J Med Genet A 2013;161A:1122–5. Cross Ref link Pubmed link , , , et al.
- 79 Ehlers–Danlos syndrome presenting with juvenile destructive periodontitis. Br Dent J 1979;147:95–6. Cross Ref link Pubmed link , .
- 80 A new variant of the Ehlers–Danlos syndrome. An autosomal dominant disorder of fragile skin, abnormal scarring, and generalised periodontitis. Birth Defects Orig Artic Ser 1977;13:85–93. Pubmed link , , .
- 81 Ehlers–Danlos type VIII skin has a reduced proportion of type III collagen. J Invest Dermatol 1981;76:422 (Abstract). , .
- 82 Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. Eur J Hum Genet 2013;21:233–6. Cross Ref link Pubmed link , , , et al.
- 83 Ehlers–Danlos syndrome with severe early‐onset periodontal disease (EDS‐VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet 2003;73:198–204. Cross Ref link Pubmed link , , , et al.
- 84 A new form of Ehlers–Danlos syndrome: fibronectin corrects defective platelet function. JAMA 1980;244:144–7. Cross Ref link Pubmed link , , , et al.
- 85 A distinct variant of the Ehlers–Danlos syndrome. Clin Genet 1979;16:335–9. Cross Ref link Pubmed link , , , et al.
- 86 Glycosaminoglycan‐free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet. 1987;4:436–53. , , , et al.
- 87 Redefining the progeroid form of Ehlers–Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A 2013;16:2519–27. , , , , et al.
- 88 Molecular basis for the progeroid variant of Ehlers–Danlos syndrome. J Biol Chem 1999;274:28 841–4. , , , et al.
- 89 A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type. Am J Med Genet A 2004;128A:39–45. Cross Ref link Pubmed link , , , et al.
- 90 Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers–Danlos‐syndrome‐like connective tissue disorder. Am J Hum Genet 2013;92:935–45. Cross Ref link Pubmed link , , , et al.
- 91 Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 2013;92:927–34. Cross Ref link Pubmed link , , , et al.
- 92 A recessive form of the Ehlers–Danlos syndrome caused by tenascin‐X deficiency. N Engl J Med 2001;345:1167–75. Cross Ref link Pubmed link , , , et al.
- 93 Tenascin‐X deficiency is associated with Ehlers–Danlos syndrome. Nat Genet 1997;17:104–8. Cross Ref link Pubmed link , , , et al.
- 94 Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies. Am J Med Genet A 2007;143A:2215–19. Cross Ref link Pubmed link , , , et al.
- 95 Tenascin‐X deficiency and Ehlers–Danlos syndrome: a case report and review of the literature. Br J Dermatol. 2010;163:1340–5. Cross Ref link Pubmed link , , , et al.
- 96 Tenascin‐X deficiency mimics Ehlers–Danlos syndrome in mice through alteration of collagen deposition. Nat Genet 2002;30:421–5. Cross Ref link Pubmed link , , , et al.
- 97 Ehlers Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet 2006;43:232–7. Pubmed link , , , et al.
- 98 Filamin A mutations cause periventricular heterotopia with Ehlers–Danlos syndrome. Neurology 2005;64:254–62. Cross Ref link Pubmed link , , , et al.
- 99 Abnormal elastic tissue in cartilage hair hypoplasia. Arch Dermatol 1988;124:1411–14. Cross Ref link Pubmed link .
- 100 Aneurysm syndromes caused by mutations in the TGF‐beta receptor. N Engl J Med 2006;355:788–98. Cross Ref link Pubmed link , , , et al.
- 101 Deleterious mutations in the Zinc‐Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 2008;82:1217–22. Cross Ref link Pubmed link , , , et al.
- 102 Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011;88:767–77. Cross Ref link Pubmed link , , , et al.
- 103 Treatment of vascular Ehlers–Danlos syndrome: a systematic review. Ann Surg. 2013;258:257–61. Cross Ref link Pubmed link , , .
- 104 Ascorbate regulation of collagen biosynthesis in Ehlers–Danlos syndrome type VI. Metabolism 1987;36:687–91. Cross Ref link Pubmed link , , , et al.
- 105 Abnormal formation of collagen cross‐links in skin fibroblasts cultured from patients with Ehlers–Danlos syndrome type VI. Proc Assoc Am Phys 1997;109:33–41. Pubmed link , , , et al.
- 106 Obstetric and gynecologic challenges in women with Ehlers–Danlos syndrome. Obstet Gynecol 2014;123:506–13. Cross Ref link Pubmed link , , , et al.
- 107 Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients. Am J Med Genet A 2012;158A:2176–82. Cross Ref link Pubmed link , , , et al.
- 108 Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers–Danlos syndrome: a prospective randomised, open, blinded‐endpoints trial. Lancet 2010;376:1476–84. Cross Ref link Pubmed link , , , et al.
Prolidase deficiency
- 109 A syndrome resembling lathyrism associated with iminodipeptiduria. Am J Med 1968;45:152–9. Cross Ref link Pubmed link , , , et al.
- 110 Autosomal recessive prolidase deficiency. Arch Dermatol 1981;117:689–97. Cross Ref link Pubmed link , , , et al.
- 111 Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis. Prenat Diagn 2000;20:927–9. Cross Ref link Pubmed link , , , et al.
- 112 Prolidase deficiency and systemic lupus erythematosus. Arch Dis Child 1997;76:441–4. Cross Ref link Pubmed link , , , et al.
- 113 Prolidase deficiency breaks tolerance to lupus‐associated antigens. Int J Rheum Dis 2013;16:674–80. Cross Ref link Pubmed link , , , et al.
- 114 Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes. Can Med Assoc J 1975;113:762–3. , , .
- 115 Mutation analysis of five new patients affected by prolidase deficiency; the lack of enzyme activity causes necrosis‐like cell death in cultured fibroblasts. Hum Genet 2002;111:3114–22. , , , et al.
- 116 Prolidase deficiency: report of a second case with quantification of the excessively excreted amino‐acids. J Pediatr 1977;91:242–6. Cross Ref link Pubmed link , , .
- 117 Prolidase deficiency with imidodipeptiduria. Clin Chim Acta 1979;93:401–7. Cross Ref link Pubmed link , , , et al.
- 118 Prolidase deficiency. A case report and literature review. Br J Dermatol 1989;121:405–9. Cross Ref link Pubmed link , , , et al.
- 119 Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency; a newly recognized association. J Pediatr 2007;150:656–8. Cross Ref link Pubmed link , , , et al.
- 120 Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr 2010;169:727–32. Cross Ref link Pubmed link , , , et al.
- 121 Prolidase deficiency. Arch Dermatol 1979;114:62–7. Cross Ref link , , , et al.
- 122 Imidopeptiduria, skin ulceration and edema in a boy with prolidase deficiency. J Pediatr 1977;91:578–83. Cross Ref link Pubmed link , , , et al.
- 123 Topical treatment of skin ulcers in prolidase deficiency. Pediatr Dermatol 1996;13:58–60. Cross Ref link Pubmed link , .
- 124 Transient beneficial effect of GH replacement therapy and topical GH application on skin ulcers in a boy with prolidase deficiency. Pediatr Dermatol 2000;17:227–30. Cross Ref link Pubmed link , , , , .
- 125 Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers. Arch Dermatol. 1981;117:689–97. Cross Ref link Pubmed link , , , et al.
- 126 In situ activation of human erythrocyte prolidase. Potential for enzyme replacement therapy enzyme replacement therapy. Pediatr Res 1988;24:709–12. Cross Ref link Pubmed link , , , et al.
- 127 Corticosteroid treatment of prolidase deficiency skin lesions by inhibiting iminodipeptide‐primed neutrophil superoxide generation. Br J Dermatol 1999;141:846–51. Cross Ref link Pubmed link , , , et al.
- 128 Therapeutic apheresis exchange in two patients with prolidase deficiency. Br J Dermatol 2002;147:1237–40. Cross Ref link Pubmed link , , , et al.
- 129 Prolidase deficiency syndrome: a rare entity. Egyptian Dermatol Online J 2011;7:14. , , , .
Osteogenesis imperfecta
- 130 Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101–16. Cross Ref link Pubmed link , , , et al.
- 131 Classification of osteogenesis imperfecta revisited. Eur J Med Genet 2010;53:1–5. Cross Ref link Pubmed link , , , et al.
- 132 Stapes surgery in osteogenesis imperfecta in Finland. Ann Otol Rhinol Laryngol 2004;113:187–93. Cross Ref link Pubmed link , , .
- 133 Helical mutations in type I collagen that affect the processing of the amino‐propeptide result in an osteogenesis imperfecta/ Ehlers–Danlos syndrome overlap syndrome. Orphanet J Rare Dis 2013;8:78. Cross Ref link Pubmed link , , , et al.
- 134 Osteogenesis imperfecta. BMJ 1984;289:394–5. Cross Ref link Pubmed link .
- 135 The relative amounts of the collagen chains alpha 1 (I), alpha 2 and alpha 1 (III) in the skin of 31 patients with osteogenesis imperfecta. Clin Sci (Lond) 1981;60:617–23. Cross Ref link Pubmed link , , , .
- 136 http://www.orpha.net/ (last accessed January 2015).
- 137 Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433–42. Cross Ref link Pubmed link , , .
- 138 Heterogeneity of osteogenesis imperfecta congenita. Lancet 1980;i:820–1. Pubmed link , .
- 139 Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci USA 1975;72:586–9. Cross Ref link Pubmed link , , , et al.
- 140 Aortic root dilatation and vascular dysfunction in osteogenesis imperfecta. Circulation 1981;64 (Suppl. 4):311 (Abstract 1193). , .
- 141 Cardiovascular abnormalities in osteogenesis imperfecta. Am Heart J 1983;106:1416–20. Cross Ref link Pubmed link , , , et al.
- 142 The relative amounts of the collagen chains alpha 1 (I), alpha 2 and alpha 1 (III) in the skin of 31 patients with osteogenesis imperfecta. Clin Sci (Lond) 1981;60:617–23. Cross Ref link Pubmed link , , , .
- 143 An abnormal collagen α‐chain containing cysteine in autosomal dominant osteogenesis imperfecta. BMJ 1983;288:112–13. Cross Ref link , , .
- 144 Osteogenesis imperfecta. Evidence for a generalized molecular disorder of collagen. Lab Invest 1977;36:501–8. Pubmed link , , .
- 145 Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 1987;24:390–405. Cross Ref link Pubmed link , , , et al.
- 146 Brittle bones, fragile molecular disorders of collagen gene structure and expression. Trends Genet 1990;6:293–300. Cross Ref link Pubmed link .
- 147 Biochemical heterogeneity of osteogenesis imperfecta: new variant. Lancet 1979;i:1193–5. Pubmed link , , , et al.
- 148 Prenatal diagnosis of lethal osteogenesis imperfecta (OI type II). J Paediatr 1982;100:127–33. Cross Ref link , , , et al.
- 149 Radiographic features of osteogenesis imperfecta. Insights Imaging 2013;4:417–29. Cross Ref link Pubmed link , , , et al.
- 150 Osteogenesis imperfecta. Pediatr Endocrinol Rev 2013;10 Suppl. 2:397–405. Pubmed link , , , .
- 151 Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics 2007;119:S163–5. Cross Ref link Pubmed link .
- 152 Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001;97:1227–31. Cross Ref link Pubmed link , , , et al.
- 153 Transplantability and therapeutic effects of bone‐marrow derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 1999;5:309–13. Cross Ref link Pubmed link , , , et al.
Cutis laxa
- 154 Cutis laxa: a manifestation of generalized elastolysis. Arch Dermatol 1965;92:373–87. Cross Ref link Pubmed link , , , et al.
- 155 Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 2009;17:1099–110. Cross Ref link Pubmed link , , , .
- 156 Cutis laxa complicating Ehlers–Danlos syndrome type II. Clin Exp Dermatol 1996;21:135–73. Cross Ref link Pubmed link , , .
- 157 Cutis laxa: Intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol 2014;33C:16–22. Cross Ref link , .
- 158 Cutis laxa: ultrastructural and biochemical studies. Arch Dermatol 1975;111:861–73. Cross Ref link Pubmed link , .
- 159 A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol 1980;75:399–403. Cross Ref link Pubmed link , , .
- 160 Heterogeneity of elastin expression in cutis laxa fibroblast strains. J Invest Dermatol 1989;93:147–53. Cross Ref link Pubmed link , , , et al.
- 161 Cutis laxa; A review. J Am Acad Dermatol 2012;66:842.e1–17. Cross Ref link Pubmed link , , , et al.
- 162 Cutis laxa. In: Beighton P, ed. McKusick's Heritable Disorders of Connective Tissue, 5th edn. St Louis: Mosby, 1993:253–79. .
- 163 Variable clinical presentations of cutis laxa. Clin Genet 1985;28:284–95. Cross Ref link Pubmed link , .
- 164 The complexity of elastic fiber biogenesis: the paradigm of cutis laxa. J Inv Dermatol 2012;132(E1);E12–14. Cross Ref link .
- 165 Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity Orphanet J Rare Dis 2013;8:36. Cross Ref link Pubmed link , , , et al.
- 166 Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 2005;124:1193–9. Cross Ref link Pubmed link , , , .
- 167 Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat 2013;34:111–21. Cross Ref link Pubmed link , , , et al.
- 168 Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. Helv Paediatr Acta 1968;23:305–13. Pubmed link .
- 169 De Barsey syndrome. Eur J Pediatr 1985;144:348–54. Cross Ref link Pubmed link .
- 170 Biochemical, morphological and immunological findings in a patient with a cutis laxa‐associated inborn disorder (de Barsey syndrome). Eur J Pediatr 1986;145:428–34. Cross Ref link Pubmed link , , .
- 171 Genotype‐phenotype spectrum of PYCR1‐related autosomal recessive cutis laxa. Mol Genet Metab 2013;110:352–62. Cross Ref link Pubmed link , , , et al.
- 172 Alterations in copper metabolism in the Menkes syndrome and a new subtype of Ehlers–Danlos syndrome. Biochemistry 1983;22:6156–63. Cross Ref link Pubmed link , , , et al.
- 173 X‐linked cutis laxa: defective cross‐link formation in collagen. N Engl J Med 1980;303:61–5. Cross Ref link Pubmed link , , , et al.
- 174 Are X‐linked cutis laxa and Menkes disease allelic? Nat Genet 1993;3:6. Cross Ref link , , , et al.
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- 197 RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 2009;85:254–63. Cross Ref link Pubmed link , , , et al.
- 198 Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation and facial abnormalities (scarf syndrome). Am J Med Genet 1989;34:305–12. Cross Ref link Pubmed link , , , .
- 199 Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006;38:452–7. Cross Ref link Pubmed link , , , et al.
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- 201 Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. Pediatr Dermatol. 2013;30:665–73. Cross Ref link Pubmed link , , , et al.
- 202 Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis 2013 Nov;36:997–1004. Cross Ref link Pubmed link , , , et al.
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Williams–Beuren syndrome
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- 207 Molecular definition of the chromosome 7 deletion in Williams syndrome and parent‐of‐origin effects on growth. Am J Hum Genet 1996;59:781–92. Pubmed link , , , , .
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- 209 Hemizygosity at the elastin locus in a developmental disorder: Williams syndrome. Nat Genet 1993;5:11–16. Cross Ref link Pubmed link , , , et al.
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- 211 Williams–Beuren syndrome. N Engl J Med 2010;362:239–52. Cross Ref link Pubmed link .
- 212 Hypercalcaemia in infants and vitamin D. BMJ 1965;2:149. , , , et al.
- 213 Molecular pathology of the elastic fibres. J Invest Dermatol 1994;103(Suppl.):S53–7. Cross Ref link , .
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- 219 Renal tract ultrasonography and calcium homeostasis in WilliamsBeuren syndrome. Pediatr Nephrol 2002;17:899–902. Cross Ref link Pubmed link , , , et al.
- 220 Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A 2004;131:255–64. Cross Ref link Pubmed link , , , et al.
- 221 Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr 2007;150:62–5. Cross Ref link Pubmed link , , , et al.
- 222 Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet 1999;83:356–60. Cross Ref link Pubmed link , , , et al.
- 223 Risk of sudden death in the WilliamsBeuren syndrome. Am J Med Genet A 2004;127A:234–7. Cross Ref link Pubmed link , , , et al.
Michelin tyre baby
- 224 Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations. Am J Med Genet 1993;45:370–2. Cross Ref link Pubmed link .
- 225 Michelin‐tire baby syndrome resulting from diffuse smooth muscle hamartoma. Pediatr Dermatol 1989;6:329–31. Cross Ref link Pubmed link .
- 226 Generalized folded skin with an underlying lipomatous nevus. “The Michelin Tire baby”. Arch Dermatol 1969;100:320–3. Cross Ref link Pubmed link .
- 227 Self‐healing congenital generalized skin creases: Michelin tire baby syndrome. J Am Acad Dermatol 2010;63:1110–11. Cross Ref link Pubmed link .
- 228 New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies. Pediatr Dermatol 2012;29:89–95. Cross Ref link Pubmed link , , , et al.
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Marfan syndrome
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- 237 Immunohistologic abnormalities of the microfibrillar‐fiber system in the Marfan syndrome. N Engl J Med 1990;323:152–9. Cross Ref link Pubmed link , , , et al.
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- 256 Novel exon skipping mutation in the fibrillin‐1 gene: two ‘hot spots’ for the neonatal Marfan syndrome. Clin Genet 1999;55:110–17. Cross Ref link Pubmed link , , , et al.
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Hyaline fibromatosis syndrome
- 264 Mutations in capillary morphogenesis gene‐2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73:957–66. Cross Ref link Pubmed link , , , et al.
- 265 Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73:791–800. Cross Ref link Pubmed link , , , et al.
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- 271 Exuberant juvenile hyaline fibromatosis in two patients. Pediatr Dermatol 2006;23:458–64. Cross Ref link Pubmed link , , , et al.
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Stiff skin syndrome
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- 283 Congenital fascial dystrophy: stiff skin syndrome – a human counterpart of the tight‐skin mouse. J Am Acad Dermatol 1989;21:943–50. Cross Ref link Pubmed link , , .
Winchester syndrome
- 284 A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol 1969;106:121–8. Cross Ref link , , , et al.
- 285 Stiff skin syndrome. Pediatrics 1971;47:360–9. Pubmed link , .
- 286 Mutation of membrane type‐1 metalloproteinase, MT1‐MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet 2012;91:572–6. Cross Ref link Pubmed link , , , et al.
- 287 MT1‐MMP‐deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover. Cell 1999;99:81–92. Cross Ref link Pubmed link , , , et al.
- 288 The Winchester syndrome: a nonlysosomal connective tissue disease. J Pediatr 1974;84:701–9. Cross Ref link Pubmed link , et al.
- 289 Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res 2007;22:329–33. Cross Ref link Pubmed link , , , et al.
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- 291 Winchester syndrome: a case report and literature review. Oral Surg Oral Med Oral Pathol 1992;74:671–7. Cross Ref link Pubmed link , , , et al.
- 292 Progressive multilayered banded skin in Winchester syndrome. J Am Acad Dermatol 2004;50(2 Suppl.):S53–6. Cross Ref link Pubmed link , , , , .
Restrictive dermopathy
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- 294 Lamina A and ZMPSTE24 (FACE‐1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;13:2493–503. Cross Ref link Pubmed link , , , et al.
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Progeria
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- 313 Recurrent de novo mutations in lamin A cause Hutchinson–Gilford progeria syndrome. Nature 2003;423:293–8. Cross Ref link Pubmed link , , , et al.
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- 317 Progeria. Arch Dermatol 1989;125:540–4. Cross Ref link Pubmed link .
- 318 New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Art Ser 1971;VII(7):291–7. , , , et al.
- 319 Mulvihill–Smith progeria‐like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet 1997;69:56–64. Cross Ref link Pubmed link , , , et al.
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- 323 Gerodermia osteodysplastica hereditaria: report of three brothers and a literature review. Am J Med Genet 1979;3:389–95. Cross Ref link Pubmed link , , .
- 324 Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? Am J Med Genet 2001;101:213–20. Cross Ref link Pubmed link , , , .
- 325 Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. Pediatr Dermatol 2008;25:66–71. Cross Ref link Pubmed link , , , et al.
- 326 Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol 2006;23:225–30. Cross Ref link Pubmed link , .
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Werner syndrome
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- 332 Premature aging and predisposition to cancers caused by mutations in RecQ family helicases. Ann NY Acad Sci 2001;928:121–31. Cross Ref link Pubmed link .
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Acrogeria
- 348 Familiäre akrogeria. Arch Dermatol Syphilol (Berlin) 1941;181:571–83. Cross Ref link .
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- 351 Acrogeria of the Gottron type in a mother and son. Eur J Dermatol 2000;10:36–40. Pubmed link , , , et al.
- 352 COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996;135:163–81. Cross Ref link Pubmed link , , , et al.
- 353 COL3A1 mutations leading to acrogeria (Gottron type). Br J Dermatol 2000;142:178–9. Cross Ref link Pubmed link , , , .
- 354 A new laminin A mutation associated with acrogeria syndrome. J Invest Dermatol 2014:134;2274–7. Cross Ref link Pubmed link , , , et al.
- 355 L'acrogéria est‐elle une maladie du fibroblasts? Dermatologica 1974;148:28–38. Cross Ref link Pubmed link , .
- 356 Fibroblasts of an acrogeria patient produce normal amounts of type I and III collagen. Dermatologica 1987;174:157–65. Cross Ref link Pubmed link , , .
- 357 The premature ageing syndromes. Reports of eight cases and description of a new entity named metageria. Br J Dermatol 1974;91:243–62. Cross Ref link Pubmed link , , , et al.
- 358 Acrometageria: a spectrum of ‘premature aging’ syndromes. Am J Med Genet 1992;44:334–9. Cross Ref link Pubmed link , , , et al.
- 359 Aneurysm syndromes caused by mutations in the TGF‐beta receptor. N Engl J Med 2006;355:788–98. Cross Ref link Pubmed link , , , et al.
Familial mandibuloacral dysplasia
- 360 New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Art Ser 1971;VII(7):291–7. , , , et al.
- 361 Craniomandibular dermato‐dysostosis. Birth Defects Orig Art Ser 1974;X:99–105. Pubmed link , , , et al.
- 362 Mandibuloacral dysplasia is caused by a mutation in LMNA‐encoding lamin A/C. Am J Hum Genet 2002;71:426–31. Cross Ref link Pubmed link , , , et al.
- 363 Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 2003;12:1995–2001. Cross Ref link Pubmed link , , , et al.
- 364 Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell 2007;6:139–53. Cross Ref link Pubmed link , et al.
- 365 Another Italian family with mandibulo‐acral dysplasia. Am J Med Genet 1986;24:357–64. Cross Ref link Pubmed link , , , et al.
- 366 Familial mandibulo‐acral dysplasia. Br J Dermatol 1981;105:719–23. Cross Ref link Pubmed link , , .
- 367 Study of a family with a new progeroid syndrome. Birth Defects Orig Artic Ser 1975;11:25–38. Pubmed link .
- 368 severe mandibuloacral dysplasia‐associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab 2008;93:4617–23. Cross Ref link Pubmed link , , , .
- 369 Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 2002;87:776–85. Cross Ref link Pubmed link , .
- 370 Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A 2010;152A:2703–10. Cross Ref link Pubmed link , , , .
- 371 Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet 2011;88:650–6. Cross Ref link Pubmed link , , , et al.
- 372 Néstor–Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet A 2011;155A:2617–25. Cross Ref link Pubmed link , , , et al.
- 373 Lessons from human progeroid syndromes. Nature 2000;408:263–6. Cross Ref link Pubmed link , .
Mulvihill–Smith syndrome
- 374 The eleventh reported case of Mulvihill–Smith syndrome in the literature. BMC Neurol 2014;7;14:4. Cross Ref link , , , et al.
- 375 Mulvihill–Smith progeria‐like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet 1997;69:56–64. Cross Ref link Pubmed link , et al.
- 376 Another disorder with prenatal shortness of stature and premature aging. Birth Defects Orig Artic Ser 1975;11:368–70. Pubmed link , .
- 377 Case report: adult phenotype of Mulvihill–Smith syndrome. Am J Med Genet A 2009;149A:496–500. Cross Ref link Pubmed link , , , et al.
- 378 Severe complications and gastric carcinoma in Mulvihill–Smith syndrome. J Med Genet 1999;14:175. , , , .
- 379 Suspicious pigmented tumor in Mulvihill–Smith syndrome. J Dtsch Dermatol Ges 2011;9:308–11. Pubmed link , .
Neonatal progeroid syndrome
- 380 Wiedemann–Rautenstrauch syndrome. J Med Genet 1990;27:256–7. Cross Ref link Pubmed link .
- 381 A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. Birth Defects Res A Clin Mol Teratol 2013;97:456–62. Cross Ref link Pubmed link , , .
- 382 The Wiedemann–Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr 1981;136:245–8. Cross Ref link Pubmed link , , , et al.
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- 384 Neonatal progeroid (Wiedemann–Rautenstrauch) syndrome: a report of five new cases and review. Am J Med Genet 2000;90:131–40. Cross Ref link Pubmed link , , , et al.
- 385 Previously unrecognized congenital progeroid disorder. Am J Med Genet 1990;35:383–7. Cross Ref link Pubmed link , , .
- 386 Hallermann–Streiff syndrome: a review. Am J Med Genet 1991;41:488–99. Cross Ref link Pubmed link .
- 387 Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1‐gene. Am J Med Genet A 2010;152A:2749–55. Cross Ref link Pubmed link , , , et al.
Pseudoxanthoma elasticum
- 388 Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE International Research Meeting. J Invest Dermatol 2013;133:1444–9. Cross Ref link Pubmed link , , , et al.
- 389 Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment: Summary of the 2010 PXE International Research Meeting. Am J Med Genet A 2011;155A:1517–26. Cross Ref link Pubmed link , , , .
- 390 Pseudoxanthoma elasticum. Clin Dermatol 1988;6:1–159. Cross Ref link Pubmed link .
- 391 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012;90:25–39. Cross Ref link Pubmed link , , , et al.
- 392 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012;90:25–39. Cross Ref link Pubmed link , , , et al.
- 393 Cutaneous manifestations of osteoectasia. Clin Exp Dermatol 1982;7:605–9. Cross Ref link Pubmed link , .
- 394 Pseudoxanthoma elasticum associated with Marfan syndrome. Ann Dermatol Vénéréol 1979;106:503–5. , , , .
- 395 Le Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223–7. Cross Ref link Pubmed link , , , et al.
- 396 Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000;25:228–31. Cross Ref link Pubmed link , , , et al.
- 397 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP binding cassette (ABC) transporter. Proc Natl Acad Sci USA 2000;97:6001–6. Cross Ref link Pubmed link , , , et al.
- 398 Loss of ATP‐dependent transport actvitiy in pseudoxanthoma elasticum‐associated mutants of human ABCC6 (MRP6). J Biol Chem 2002;277:16860–7. Cross Ref link Pubmed link , , , et al.
- 399 Mineralization/anti‐mineralization networks in the skin and vascular connective tissues. Am J Pathol 2013;183:10–18. Cross Ref link Pubmed link , .
- 400 ATP‐binding cassette subfamily C member 6‐mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation. Arterioscler Thromb Vasc Biol 2014;34:1985–9. Cross Ref link Pubmed link , , , et al.
- 401 Cardiac calcifications and yellow papules in a young man. Arch Dermatol 1988;124:1559–64. Cross Ref link , , .
- 402 Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. Histopathology 1980;4:607–11. Cross Ref link Pubmed link , .
- 403 Placental calcification in pseudoxanthoma elasticum. Ann Acad Med Singapore 2008;37:598–600. Pubmed link , .
- 404 Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers. Br J Radiol 2006;79:221–5. Cross Ref link Pubmed link , , , et al.
- 405 Mammographic findings in pseudoxanthoma elasticum. J Am Acad Dermatol 2003;48:359–66. Cross Ref link Pubmed link , , , et al.
- 406 Diagnosis of pseudoxanthoma elasticum in patients without characteristic skin lesions. N Engl J Med 1987;317:347–50. Cross Ref link Pubmed link , , , et al.
- 407 Pseudoxanthoma elasticum: biopsy of clinically normal skin in the investigation of patients with angioid streaks. Br J Dermatol 2007;157:748–51. Cross Ref link Pubmed link , , , et al.
- 408 Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007;44:621–8. Cross Ref link Pubmed link , , , et al.
- 409 Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol 2012;166:1107–11. Cross Ref link Pubmed link , , , et al.
- 410 Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol 2014;134:658–65. Cross Ref link Pubmed link , , , et al.
- 411 Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am J Med Genet Part A 2010;152A:1049–58. Cross Ref link Pubmed link , , , et al.
- 412 An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. Br J Dermatol 1966;134:1157–9. Cross Ref link , , .
- 413 Pseudoxanthoma elasticum with extensive comedo formation. Dermatologica 1977;154:318–19. Pubmed link , .
- 414 Pseudoxanthoma elasticum with granulomatous skin lesions. Arch Dermatol 1967;96:528–31. Cross Ref link Pubmed link .
- 415 Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol 2003;48:620–2. Cross Ref link Pubmed link , , .
- 416 An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A 2010;152A:118–23. Cross Ref link Pubmed link , , , et al.
- 417 Pseudoxanthoma elasticum: angiographic manifestations in abdominal vessels. Radiology 1969;93:559–62. Cross Ref link Pubmed link , .
- 418 Relationship between ankle brachial index and arterial remodelling in pseudoxanthoma elasticum. J Vasc Surg 2011;54:1390–4. Cross Ref link Pubmed link , , , et al.
- 419 Pseudoxanthoma elasticum and hypertension. N Engl J Med 1964;271:1204–7. Cross Ref link Pubmed link , , , et al.
- 420 Visceral angiographic findings in pseudoxanthoma elasticum. Br J Radiol 1988;61:368–71. Cross Ref link Pubmed link , .
- 421 Gastric bleeding in pseudoxanthoma elasticum. Am J Gastroenterol 1988;83:868–72. Pubmed link , , , et al.
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- 424 Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest 1980;78:113–15. Cross Ref link Pubmed link , , , et al.
- 425 Pseudoxanthoma elasticum with cardiac involvement. A case report and review of the literature. S Afr Med J 1981;59:268–75. Pubmed link , , , et al.
- 426 Pseudoxanthoma elasticum and angioid streaks. A review of 106 cases. Am J Med 1961;30:537–43. Cross Ref link Pubmed link , , , et al.
- 427 Classification of angioid streaks. Br J Ophthalmol 1955;39:298–300. Cross Ref link Pubmed link .
- 428 Angioid streaks. Surv Ophthalmol 1982;26:235–46. Cross Ref link Pubmed link , .
- 429 Mottled fundus oculi in pseudoxanthoma elasticum. Arch Ophthalmol 1963;73:792–5. Cross Ref link , .
- 430 Reticular‐like pigmentary patterns in pseudoxanthoma elasticum. Ophthalmology 1988;95:306–11. Cross Ref link Pubmed link , , .
- 431 Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom 2011;94:2:169–80. Cross Ref link Pubmed link , , , et al.
- 432 Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci 2007;48:4250–6. Cross Ref link Pubmed link , , , et al.
- 433 Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum. Surgery 1989;105:170–4. Pubmed link , , .
- 434 Manifestations of pseudoxanthoma elasticum during pregnancy: a case report and review of the literature. Am J Med Genet 1984;18:755–62. Cross Ref link Pubmed link , , , et al.
- 435 The obstetric and gynaecological implications of pseudoxanthoma elasticum. Br J Obstet Gynaecol 1987;94:884–8. Cross Ref link Pubmed link , , .
- 436 Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. Br J Dermatol 2004;151:1011–18. Cross Ref link Pubmed link , , , .
- 437 Pseudoxanthome élastique avec calcifications multiples et hyperphosphoremie. Ann Dermatol Vénéréol 1996;123:563–6. , , , et al.
- 438 Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism. Am J Med 1987;83:1157–62. Cross Ref link Pubmed link , .
- 439 Hyperphosphatemic tumoral calcinosis. Ann Intern Med 1982;96:586–91. Cross Ref link Pubmed link , , , et al.
- 440 Concurrence of pseudoxanthoma elasticum, elastosis perforans serpiginosa and systemic sclerosis. Dermatologica 1970;140:54–9. Cross Ref link Pubmed link , .
- 441 Heterotopic calcification, hyperphosphataemia and angioid streaks of the retina. Am J Med 1961;31:488–9. Cross Ref link Pubmed link , .
- 442 Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes. Blood 2002;99:30–5. Cross Ref link Pubmed link , , .
- 443 The vitamin K‐dependent carboxylase. Annu Rev Nutr 2005;25:127–49. Cross Ref link Pubmed link .
- 444 Coexistent pseudoxanthoma elasticum and vitamin K‐dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol 2009;174:534–40. Cross Ref link Pubmed link , , , et al.
- 445 Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum‐like phenotypes. J Invest Dermatol 2009;129:553–63. Cross Ref link Pubmed link , , , et al.
- 446 Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke–Ollendorff syndrome). Dermatology 1994;189:368–72. Cross Ref link Pubmed link , , , et al.
- 447 Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol 2010;130:661–70. Cross Ref link Pubmed link , ,
- 448 Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders – can diet help? J Dtsch Dermatol Ges 2011;9:586–93. Pubmed link , , .
- 449 Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity. Am J Med Genet 1984;19:235–44. Cross Ref link Pubmed link , , , .
- 450 A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol 2011;65:341–8. Cross Ref link Pubmed link , , , et al.
- 451 Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6−/−). J Invest Dermatol 2009;129:1388–94. Cross Ref link Pubmed link , , .
- 452 Magnesium carbonate‐containing phosphate binder prevents connective tissue mineralization in Abcc6(‐/‐) mice‐potential for treatment of pseudoxanthoma elasticum. Clin Transl Sci 2009;2:398–404. Cross Ref link Pubmed link , , , .
- 453 Magnesium reduces carotid intima‐media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci 2012;5:259–64. Cross Ref link Pubmed link , , .
- 454 Plastic surgery in pseudoxanthoma elasticum: experience in nine patients. Plast Reconstr Surg 1990;85:233–8. Cross Ref link Pubmed link , , .
- 455 Antivascular endothelial growth factor treatment in pseudoxanthoma elasticum patients. Dev Ophthalmol 2010;46:96–106. Cross Ref link Pubmed link .
Fibrodysplasia ossificans progressiva
- 456 Fibrodysplasia ossificans progressiva: the clinical features and natural history of 34 patients. J Bone Joint Surg 1982;64:76–83. , .
- 457 The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005;3:201–4. Cross Ref link , , , .
- 458 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006;38:525–7. Cross Ref link Pubmed link , , , , et al.
- 459 Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLOS One 2009;4(3):e5005. Cross Ref link Pubmed link , , , et al.
- 460 Three pairs of monozygotic twins with fibrodysplasia ossificans progressiva: the role of environment in the progression of heterotopic ossification. Clin Rev Bone Miner Metab 2005;3:205–8. Cross Ref link , , .
- 461 The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva: a study of forty‐four patients. J Bone Joint Surg 1993;75A:215–19. , , , et al.
- 462 Fibrodysplasia ossificans progressive and progressive osseous heteroplasia. Clin Rev Bone Miner Metab 2005;3:257–9. Cross Ref link , .
Primary hypertrophic osteoarthropathy
- 463 Hypertrophic osteoarthropathy: what a rheumatologist should know about this uncommon condition. Rheum Dis Clin North Am 2013;39:383–400. Cross Ref link Pubmed link , .
- 464 Mutations in 15‐hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nature Genet 2008;40:789–93. Erratum: Nature Genet 2008;40:927. Cross Ref link Pubmed link , , , et al.
- 465 Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 2012;90:125–32. Cross Ref link Pubmed link , et al.
- 466 Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Hum Mutat 2012;33:660–4. Cross Ref link Pubmed link , et al.
- 467 Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat 2012;33:1175–81. Cross Ref link Pubmed link , et al.
- 468 http://www.orpha.net (last accessed January 2015). . Orphanet
Adermatoglyphia
- 469 The immigration delay disease: adermatoglyphia‐inherited absence of epidermal ridges. J Am Acad Dermatol 2011;64:974–80. Cross Ref link Pubmed link , , , .
- 470 Congenital absence of dermatoglyphs. J Am Acad Dermatol 1993;29:355–8). Cross Ref link Pubmed link , , .
- 471 Absence of fingerprints in four generations. Lancet 1968;2:1250. Cross Ref link Pubmed link .
- 472 [Ectodermal dysplasia. Missing papillary pattern, nail disorders and furrows on 4 fingers.] Arch Klin Exp Dermatol 1965;222:546–57. Cross Ref link Pubmed link .
- 473 Absence of dermal ridge patterns: genetic heterogeneity. Am J Med Genet 1983;16:81–8. Cross Ref link Pubmed link , .
- 474 Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet 2006;79:724–30. Cross Ref link Pubmed link , , , et al.
- 475 Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation‐associated genes. Br J Dermatol 2014;171:1521–4. Cross Ref link Pubmed link , , , et al.
- 476 Fingerprint changes and verification failure among patients with hand dermatitis. JAMA Dermatol 2013;149:294–9. Cross Ref link , , , , .
- 477 Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. Am J Med Genet A 2010;152A:2656–7. Cross Ref link Pubmed link , , , , .
Lipoid proteinosis
- 478 The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 2007;16:881–90. Cross Ref link Pubmed link , , , , .
- 479 Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004;151:413–23. Cross Ref link Pubmed link , , , et al.
- 480 Rapid diagnosis of lipoid proteinosis using an anti‐extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci 2004;35:151–3. Cross Ref link Pubmed link , , , et al.
- 481 Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;11:833–40. Cross Ref link Pubmed link , , , et al.
- 482 Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet 2003;362:118–23. Cross Ref link Pubmed link , , , et al.
- 483 Lipoid proteinosis. J Am Acad Dermatol 1992;27:293–7. Cross Ref link Pubmed link , , , et al.
- 484 Lipoid proteinosis: new immunopathological observations. Clin Exp Dermatol 1991;16:350–4. Cross Ref link Pubmed link , , , et al.
- 485 Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149–55. Cross Ref link Pubmed link .
- 486 A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria. Br J Dermatol 2014;171:412–14. Cross Ref link Pubmed link , , , et al.
- 487 Amygdala, affect and cognition: evidence from 10 patients with Urbach–Wiethe disease. Brain 2003;126:2627–37. Cross Ref link Pubmed link , , .
- 488 Lipoid proteinosis: importance of dermabrasion. Apropos of a case. Ann Chir Plast Esthet 1998;43:78–81. Pubmed link , , , et al.
- 489 Carbon dioxide laser treatment for lipoid proteinosis (Urbach–Wiethe syndrome) involving the eyelids. Br J Ophthalmol 1997;81:253. Pubmed link , , , et al.
- 490 Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119:541–4. Cross Ref link Pubmed link , .
- 491 Oral DMSO therapy in three patients with lipoid proteinosis. Results of long‐term therapy. Hautarzt 1997;48:477–81. Cross Ref link Pubmed link , , , .
- 492 Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol (Stockh) 1996;76:154–5. , , , .
- 493 Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. J Dermatol Case Rep 2014;31;8:29–34. , , , .
- 494 D‐penicillamine treatment for lipoid proteinosis. J Eur Acad Dermatol Venereol 2002;16:286–8. Cross Ref link Pubmed link , , , et al.
Pterygium syndromes
- 495 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006;79:390–5. Cross Ref link Pubmed link , , , et al.
- 496 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genet 2002;32:285–9 (Letter). Cross Ref link Pubmed link , , , et al.
- 497 Exome sequence identifies RIPK4 as the Bartsocas–Papas syndrome locus. Am J Hum Genet 2012;90:69–75. Cross Ref link Pubmed link , , , et al.
- 498 Unreported manifestations in two Dutch families with Bartsocas–Papas syndrome. Am J Med Genet 2003;123A, 243–8. Cross Ref link Pubmed link , , , et al.