" /> Bruck syndrome 2 - CISMeF





Preferred Label : Bruck syndrome 2;

Symbol : BRKS2;

CISMeF acronym : BRKS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta with congenital joint contractures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 gene (PLOD2, 601865.0001);

Laboratory abnormalities : Elevated urinary hydroxyproline;

Prefixed ID : #609220;

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31/10/2024


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