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

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

Frontiers in neurology（2023）

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摘要

This study illustrates the importance of applying a collaborative diagnostic approach by combining detailed phenotyping data and metabolic results from the clinical environment with advanced next generation sequencing analysis techniques from the research environment to increase the diagnostic yield in patients with genetically unresolved leukodystrophies.

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关键词

genetic diagnosis,hypomyelination,leukodystrophy,medical genetics,neurogenetics,next generation sequencing (NGS),pediatric neurology,white matter disorders

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