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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Autors principals:	Moritz Dorenkamp, Naomi Porret, Miriam Diepold, Alicia Rovó
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2023-11-01
Col·lecció:	Medicina
Matèries:	bone marrow failure pure red cell aplasia erythroaplasia Diamond–Blackfan anemia RPL5 ribosomopathy
Accés en línia:	https://www.mdpi.com/1648-9144/59/11/1953
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