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...

Ful tanımlama

Kaydedildi:

Detaylı Bibliyografya
Asıl Yazarlar:	Moritz Dorenkamp, Naomi Porret, Miriam Diepold, Alicia Rovó
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	MDPI AG 2023-11-01
Seri Bilgileri:	Medicina
Konular:	bone marrow failure pure red cell aplasia erythroaplasia Diamond–Blackfan anemia RPL5 ribosomopathy
Online Erişim:	https://www.mdpi.com/1648-9144/59/11/1953
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!

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

Benzer Materyaller