Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in <i>RPS19</i>.

Cole, Sarah; Giri, Neelam; Alter, Blanche P; Gianferante, D Matthew

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

Cole, Sarah; Giri, Neelam; Alter, Blanche P; Gianferante, D Matthew.

Afiliação

Cole S; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States.
Giri N; Walter Reed National Military Medical Center, Bethesda, MD, United States.
Alter BP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States.
Gianferante DM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States.

Front Genet ; 13: 914141, 2022.

Article em En | MEDLINE | ID: mdl-35923690

Palavras-chave

DBA; genotype; inherited bone marrow failure syndrome; phenotype; ribosomopathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

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