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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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Hoofdauteurs: Panayiota L. Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G. Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W. Lederer, Thessalia Papasavva
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2024-11-01
Reeks:Frontiers in Genetics
Onderwerpen:
diamond-blackfan anemia syndrome
whole exome sequencing
next generation sequencing
bone marrow failure syndrome
data analysis
filtering
Online toegang:https://www.frontiersin.org/articles/10.3389/fgene.2024.1459291/full
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