Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia

Genotype‐phenotype associations in individuals with Diamond Blackfan anaemia

Abstract Introduction Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins. Methods We conducted a genotype‐ph...

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Bibliographic Details
Main Authors: D. Matthew Gianferante, Kyra J. W. Mendez, Sarah Cole, Shahinaz M. Gadalla, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:eJHaem
Subjects:
anaemia
Diamond Blackfan anaemia
genotype
phenotype
ribosomal protein
Online Access:https://doi.org/10.1002/jha2.1031
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