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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol EBJPAA
Location 2q22-q31
Name epidermolysis bullosa severe, junctional
Corresponding gene ITGA6
Main clinical features
  • characterized by blisters within the lamina lucida of the basement membrane zone (BMZ) . associated with pyloric atresia
  • Genetic determination autosomal recessive
    Related entries see also EBJPA
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name integrin alpha 6 (ITGA6)