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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and...

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Principais autores: Stefanie Perrier, Kether Guerrero, Luan T. Tran, Mackenzie A. Michell-Robinson, Geneviève Legault, Bernard Brais, Michel Sylvain, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Isabelle Thiffault, Geneviève Bernard
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-04-01
Serier:Frontiers in Neurology
Fag:
leukodystrophy
hypomyelination
next generation sequencing (NGS)
genetic diagnosis
medical genetics
pediatric neurology
Online adgang:https://www.frontiersin.org/articles/10.3389/fneur.2023.1148377/full
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