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Article

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.

CNS neuroscience & therapeutics - 1 May 2020

Xie Juan-Juan, Ni Wang, Wei Qiao, Ma Huan, Bai Ge, Shen Ying, Wu Zhi-Ying

Abstract excerpt

AIM: Leukodystrophies are a group of inherited white matter disorders with clinical, genetic, and imaging heterogeneity, which usually pose a diagnostic challenge for physicians. We aimed to identify new clinical characteristics and novel pathogenic variants of hereditary leukodystrophies in this study. METHODS: Whole exome sequencing (WES) was performed in 28 unrelated patients clinically suspected with...

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PMID: 31885218
DOI: 10.1111/cns.13284
PMCID: PMC7163788

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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