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

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 st...

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Detalles Bibliográficos
Autores principales: Xie, Juan‐Juan, Ni, Wang, Wei, Qiao, Ma, Huan, Bai, Ge, Shen, Ying, Wu, Zhi‐Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163788/
https://www.ncbi.nlm.nih.gov/pubmed/31885218
http://dx.doi.org/10.1111/cns.13284