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A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/7550320 url:https://www.ncbi.nlm.nih.gov/pubmed/10792571 url:https://www.ncbi.nlm.nih.gov/pubmed/7706760 url:https://www.ncbi.nlm.nih.gov/pubmed/11810295 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450