A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature

Diamond–Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an autosomal dominant inheritance and is commonly diagn...

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Detalles Bibliográficos
Autores principales: Dorenkamp, Moritz, Porret, Naomi, Diepold, Miriam, Rovó, Alicia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673431/
https://www.ncbi.nlm.nih.gov/pubmed/38004002
http://dx.doi.org/10.3390/medicina59111953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673431/
https://www.ncbi.nlm.nih.gov/pubmed/38004002
http://dx.doi.org/10.3390/medicina59111953

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