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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Principais autores:	Sarah Cole, Neelam Giri, Blanche P. Alter, D. Matthew Gianferante
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-07-01
coleção:	Frontiers in Genetics
Assuntos:	DBA genotype phenotype ribosomopathy inherited bone marrow failure syndrome
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2022.914141/full
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