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Article

Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.

Annals of clinical and translational neurology - 1 Sept 2023

Li Yingjie, Xu Jiaming, Xu Yan, Li Chuanzhou, Wu Yan, Liu Zhijun

Abstract excerpt

OBJECTIVE: Leukodystrophies are a diverse group of rare inherited disorders that affect the white matter of the central nervous system with a wide phenotypic spectrum. We aimed to characterize the clinical and genetic features of leukodystrophies in a central-southern Chinese cohort. METHODS: A cohort of 16 Chinese probands with leukodystrophy was recruited and performed genetic analysis by targeted panels or...

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Identifiers

PMID: 37434390
DOI: 10.1002/acn3.51845
PMCID: PMC10502626

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