Severe Junctional Epidermolysis Bullosa 3B - CISMeF
Severe Junctional Epidermolysis Bullosa 3BNCIt concept
Preferred Label : Severe Junctional Epidermolysis Bullosa 3B;
NCIt synonyms : Junctional Epidermolysis Bullosa Type Herlitz; Generalized Severe Epidermolysis Bullosa; JEB-H; JEB3B;
NCIt definition : An autosomal recessive condition caused by mutation(s) in the LAMC2 gene, encoding
laminin subunit gamma-2. It is characterized by severe skin blisters and erosions
and is often fatal.;