Undiagnosed Anemia after 9 years: Diamond-Blackfan (homozygous Variant c.140G>T; p.Gly47Val in ADA2 Gene)

Context: Diamond-Blackfan anemia (DBA) is a rare autosomal recessive disorder characterized by erythroblastopenia and pure red cell aplasia. The condition typically results from an abnormality in a ribosomal protein gene. Case presentation: Cases of cytopenia have been linked to ADA2 deficiency c...

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Bibliografske podrobnosti

Principais autores:	Narges Obeidi, Zeynab Gharehdaghi1, GholamReza Fathpour, Mohadeseh Rostamipoor
Format:	Artigo
Jezik:	Inglês
Izdano:	SBMU Journals 2024-07-01
Serija:	Archives of Advances in Biosciences
Teme:	Adenosin Deaminase Hematopoiesis Diamond Blackfan anemia Delayed diagnosis
Online dostop:	https://journals.sbmu.ac.ir/aab/article/view/44141
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