" /> Exostoses, multiple, type II - CISMeF





Preferred Label : Exostoses, multiple, type II;

Symbol : EXT2;

CISMeF acronym : EXT2;

Type : Phenotype, molecular basis known;

Description : Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the exostosin 2 gene (EXT2, 133701.0001);

Neoplasia : Increased risk of chondrosarcoma;

Prefixed ID : #133701;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

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