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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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Detalles Bibliográficos
Autores principales:	Cole, Sarah, Giri, Neelam, Alter, Blanche P., Gianferante, D. Matthew
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340065/ https://www.ncbi.nlm.nih.gov/pubmed/35923690 http://dx.doi.org/10.3389/fgene.2022.914141

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