" /> 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;

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03/05/2025


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