" /> Greenberg dysplasia - CISMeF





Preferred Label : Greenberg dysplasia;

Symbol : GRBGD;

CISMeF acronym : GRBGD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Moth-eaten skeletal dysplasia; Hydrops-ectopic calcification-moth-eaten skeletal dysplasia; Hem skeletal dysplasia; Chondrodystrophy, hydropic and prenatally lethal type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lamin B receptor (LBR, 600024.0003);

Laboratory abnormalities : Elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts;

Prefixed ID : #215140;

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.