GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

Diamond–Blackfan anemia (DBA) is one of the inherited bone marrow failure syndromes marked by erythroid hypoplasia. Underlying variants in ribosomal protein (RP) genes account for 80% of cases, thereby classifying DBA as a ribosomopathy. In addition to RP genes, extremely rare variants in non-RP gen...

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Bibliographic Details
Main Authors: Birgit van Dooijeweert, Sima Kheradmand Kia, Niklas Dahl, Odile Fenneteau, Roos Leguit, Edward Nieuwenhuis, Wouter van Solinge, Richard van Wijk, Lydie Da Costa, Marije Bartels
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Genes
Subjects:
Diamond–Blackfan anemia
GATA-1
DBA-like disease
dyserythropoiesis
dysmegakaryopoiesis
Online Access:https://www.mdpi.com/2073-4425/13/3/447

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https://www.mdpi.com/2073-4425/13/3/447

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