Diaphyseal dysplasia with anemia

Definition:

Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported.

References:

[1]. David Geneviève, et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008 Mar;40(3):284-6. [Content Brief]

[2]. Parisa Mazaheri, et al. Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia. Pediatr Blood Cancer. 2010 Dec 1;55(6):1187-90. [Content Brief]

[3]. R K Mondal, et al. Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease. Indian J Pediatr. 2007 Mar;74(3):291-3. [Content Brief]

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