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

INTRODUCTION: Rare 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 a...

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Detalles Bibliográficos
Autores principales: Perrier, Stefanie, Guerrero, Kether, Tran, Luan T., Michell-Robinson, Mackenzie A., Legault, Geneviève, Brais, Bernard, Sylvain, Michel, Dorman, James, Demos, Michelle, Köhler, Wolfgang, Pastinen, Tomi, Thiffault, Isabelle, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108901/
https://www.ncbi.nlm.nih.gov/pubmed/37077564
http://dx.doi.org/10.3389/fneur.2023.1148377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108901/
https://www.ncbi.nlm.nih.gov/pubmed/37077564
http://dx.doi.org/10.3389/fneur.2023.1148377

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