" /> 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.;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.