Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature

Abstract Diamond–Blackfan anemia (DBA) is a rare constitutional inherited bone marrow failure syndrome (iBMF) characterized by progressive severe non-regenerative anemia and congenital abnormalities. Diagnosis is made by identification of a DBA-causing variant, typically in a ribosomal protein gene....

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Bibliographic Details
Main Authors: Francesco Versino, Paola Bianchi, Elisa Fermo, Wilma Barcellini, Bruno Fattizzo
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-024-03490-6
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