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Article

Probable digenic inheritance of Diamond-Blackfan anemia.

American journal of medical genetics. Part A - 1 Mar 2024

Furuta Yutaka, Tinker Rory J, Gulsevin Alican, Neumann Serena M, Hamid Rizwan, Cogan Joy D, Rives Lynette, Liu Qi, Chen Hua-Chang, Joos Karen M, Phillips John A

Abstract excerpt

A 26-year-old female proband with a clinical diagnosis and consistent phenotype of Diamond-Blackfan anemia (DBA, OMIM 105650) without an identified genotype was referred to the Undiagnosed Diseases Network. DBA is classically associated with monoallelic variants that have an autosomal-dominant or -recessive mode of inheritance. Intriguingly, her case was solved by a detection of a digenic interaction between...

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PMID: 37897121
DOI: 10.1002/ajmg.a.63454

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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