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Ghosal hematodiaphyseal dysplasia
Epidemiology: rare
Pathology:
- increased bone density
- predominant diaphyseal involvement
- aregenerative corticosteroid-sensitive anemia
- bone marrow failure
- functional marrow cells are regenerated slowly or not at all
Genetics:
- autosomal recessive
- associated with defects in TBXAS1
General
genetic disease of the blood/bone marrow
Database Correlations
OMIM 231095
References
OMIM :accession 231095