Epidermolysis bullosa is an autosomal dominant or recessive dermatological disorder caused by mutations of the ITGB4 gene.
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Fine JD et al. (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. |
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Pulkkinen L et al. () Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. |
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Uitto J et al. (1997) Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. |
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Ruzzi L et al. (1997) A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. |
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Adashi EY et al. (1980) An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia. |
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Toriello HV et al. (1983) Autosomal-recessive aplasia cutis congenita--report of two affected sibs. |
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Bull MJ et al. (1983) Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome. |
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None (1983) Congenital skin defects and gastrointestinal atresia. |
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Leschot NJ et al. (1980) Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters. |
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Egan N et al. (1985) Junctional epidermolysis bullosa and pyloric atresia in two siblings. |
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Berger TG et al. (1986) Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. |
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Rosenbloom MS et al. (1987) Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings. |
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Carmi R et al. (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia. |
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Maman E et al. (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. |
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Pulkkinen L et al. (1998) Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. |
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Leschot NJ et al. (1975) Letter: Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects. |
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Achiron R et al. (1992) Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography. |
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Lestringant GG et al. (1992) The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. |
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Lacour JP et al. (1992) Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? |
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Nazzaro V et al. (1990) Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. |
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Ishigami T et al. (1990) A case of pyloric atresia associated with junctional epidermolysis bullosa. |
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None (1986) Aplasia cutis congenita: a clinical review and proposal for classification. |
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Vivona G et al. (1987) Aplasia cutis congenita and/or epidermolysis bullosa. |
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Orphanet article Orphanet ID 231568 |
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OMIM.ORG article Omim 131800 |
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Wikipedia article Wikipedia EN (Epidermolysis_bullosa) |