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GENATLAS PHENOTYPE
last update : 26/09/2005
Symbol EBJ2B
Location 1q32
Name epidermolysis bullosa junctional, non-Herlitz type
Other name(s)
  • epidermolysis bullosa, junctional atrophic
  • epidermolysis bullosa, non lethal form
  • Corresponding gene LAMB3
    Other symbol(s) GABEB
    Main clinical features
  • skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane.
  • non-Herlitz' type is accompanied by a less severe phenotype than Herlitz's type
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name kalinin/nicein, laminin 5, beta 3 (LAMB3)
    Remark(s)