Ghosal hematodiaphyseal dysplasia

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

Ghosal hematodiaphyseal dysplasia 


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 



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