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References OMIM Gene GeneReviews HGMD HGNC
last update : 27/07/2006
Symbol EBJ2D
Location 17q25.1
Name epidermolysis bullosa junctional, non-Herlitz type
Other name(s) epidermolysis bullosa, generalized atrophic benign
Corresponding gene ITGB4
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
  • dystrophy of the nails, nonscarring blistering of skin, mild skin atrophy, hypodontia
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease