| Literature DB >> 32032242 |
Tugba Belgemen-Ozer1, Orhan Gorukmez2.
Abstract
Congenital dyserythropoietic anemias comprise a group of very rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphologic abnormalities of the erythroblasts in the bone marrow. The wide variety of phenotypes observed in these patients makes the diagnosis difficult; identification of the genetic variants is crucial in differential diagnosis and clinical management. We report the nineth case with congenital dyserythropoietic anemia type IV, with a novel mutation that has not been reported before.Entities:
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Year: 2020 PMID: 32032242 DOI: 10.1097/MPH.0000000000001727
Source DB: PubMed Journal: J Pediatr Hematol Oncol ISSN: 1077-4114 Impact factor: 1.289