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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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