QR-koodi

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,...

Täydet tiedot

Tallennettuna:
Päätekijät: Panayiota L. Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G. Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W. Lederer, Thessalia Papasavva
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2024-11-01
Sarja:Frontiers in Genetics
Aiheet:
diamond-blackfan anemia syndrome
whole exome sequencing
next generation sequencing
bone marrow failure syndrome
data analysis
filtering
Linkit:https://www.frontiersin.org/articles/10.3389/fgene.2024.1459291/full
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia