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Article

Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report.

The American journal of case reports - 17 Jan 2022

Mars-Holt Evida, Murdoch Alex, Frugoli Amanda, Utz Brian, Kong Lynn

Abstract excerpt

BACKGROUND Diamond-Blackfan anemia (DBA) is a rare genetic disorder associated with macrocytic anemia and reticulocytopenia, with patients usually transfusion-dependent in the first years of life. The disease inheritance is predominantly autosomal dominant, but varying presentations have been described owing to incomplete penetrance and widely variable expression. De novo mutations have been reported in about 55%...

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Identifiers

PMID: 35038319
DOI: 10.12659/AJCR.932649
PMCID: PMC8784725

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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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