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Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature
INTRODUCTION: Diamond–Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the RPS19 gene (25% of the cases). METHODS: This case r...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373105/ https://www.ncbi.nlm.nih.gov/pubmed/32742115 http://dx.doi.org/10.4103/jpbs.JPBS_234_19 |