Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition. With its genetic heterogeneity, variable penetrance and expressivity, DBAS poses significant diagnostic challenges,...

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Bibliografiska uppgifter

Huvudupphov:	Panayiota L. Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G. Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W. Lederer, Thessalia Papasavva
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Frontiers Media S.A. 2024-11-01
Serie:	Frontiers in Genetics
Ämnen:	diamond-blackfan anemia syndrome whole exome sequencing next generation sequencing bone marrow failure syndrome data analysis filtering
Länkar:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1459291/full
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