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Article

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

Genes - 28 Feb 2022

van Dooijeweert Birgit, Kia Sima Kheradmand, Dahl Niklas, Fenneteau Odile, Leguit Roos, Nieuwenhuis Edward, van Solinge Wouter, van Wijk Richard, Da Costa Lydie, Bartels Marije

Abstract excerpt

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 genes, including GATA1, the master transcription factor in erythropoiesis, have been reported in recent years in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35328001
DOI: 10.3390/genes13030447
PMCID: PMC8949872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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