" /> Severe Junctional Epidermolysis Bullosa 3B - CISMeF





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.;

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01/05/2025


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