Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Epidermolysis bullosa

Epidermolysis bullosa iste ine autosomal dominante und rezessive Hauterkrankung, die durch Mutationen des ITGB4-Gens ausgelöst wird.

Gliederung

Erblicher Bluthochdruck
ACE
ACE2
AGT
Benigne Hyperproreninämie
Monogener Hypertonus
VEGFC

Referenzen:

1.

Carmi R et. al. (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia.

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2.

Vidal F et. al. (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

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3.

Maman E et. al. (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.

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4.

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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5.

Chavanas S et. al. (1999) Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

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6.

Birnbaum RY et. al. (2008) Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

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7.

Leschot NJ et. al. (1975) Letter: Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects.

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8.

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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9.

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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10.

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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11.

Nazzaro V et. al. (1990) Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.

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12.

Ishigami T et. al. (1990) A case of pyloric atresia associated with junctional epidermolysis bullosa.

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13.

None (1986) Aplasia cutis congenita: a clinical review and proposal for classification.

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14.

Rosenbloom MS et. al. (1987) Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.

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15.

Vivona G et. al. (1987) Aplasia cutis congenita and/or epidermolysis bullosa.

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16.

Berger TG et. al. (1986) Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease.

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17.

Egan N et. al. (1985) Junctional epidermolysis bullosa and pyloric atresia in two siblings.

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18.

Leschot NJ et. al. (1980) Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.

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19.

None (1983) Congenital skin defects and gastrointestinal atresia.

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20.

Bull MJ et. al. (1983) Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome.

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21.

Toriello HV et. al. (1983) Autosomal-recessive aplasia cutis congenita--report of two affected sibs.

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22.

Adashi EY et. al. (1980) An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia.

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23.

Ruzzi L et. al. (1997) A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

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24.

Uitto J et. al. (1997) Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.

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25.

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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26.

Fine JD et. al. (2000) Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.

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27.

Varki R et. al. (2006) Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

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28.

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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