Ghosal hematodiaphyseal dysplasia

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Ghosal hematodiaphyseal dysplasia2016-12-04T07:37:49+00:00

Ghosal hematodiaphyseal dysplasia 

ORTHOPAEDICS

A rare autosomal recessive disorder (OMIM:231095) characterised by increased bone density, primarily diaphyseal, and aregenerative corticosteroid-sensitive anaemia.

Molecular pathology Defects of TBXAS1, which encodes a member of the cytochrome P450 monooxygenase that converts prostglandin H2 to thromboxane A2, cause Ghosal haematodiaphyseal dysplasia.

Synonyms GHDD, Ghosal syndrome 

References http://www.uniprot.org/uniprot/P24557

http://www.omim.org/entry/231095

 

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