RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease

Abstract excerpt

Congenital dyserythropoietic anemias (CDAs) are rare disorders defined by morphologic abnormalities of erythroid precursors that lead to ineffective erythropoiesis. 1,2 CDA type III (CDA III), characterized by multinucleated erythroblasts in the bone marrow, represents the rarest form, with only 60 patients described in the literature. Studies in 2 independent families identified a causative dominant missense...

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