Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

Introduction: Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes. It is characterized by failure of red blood cell production, and common features include congenital malformations and cancer predisposit...

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Bibliographic Details
Main Authors: Sarah Cole, Neelam Giri, Blanche P. Alter, D. Matthew Gianferante
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
DBA
genotype
phenotype
ribosomopathy
inherited bone marrow failure syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.914141/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.914141/full

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