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Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS:...

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Detalles Bibliográficos
Autores principales: Ji, Haoran, Li, Dongxiao, Wu, Ye, Zhang, Quanli, Gu, Qiang, Xie, Han, Ji, Taoyun, Wang, Huifang, Zhao, Lu, Zhao, Haijuan, Yang, Yanling, Feng, Hongchun, Xiong, Hui, Ji, Jinhua, Yang, Zhixian, Kou, Liping, Li, Ming, Bao, Xinhua, Chang, Xingzhi, Zhang, Yuehua, Li, Li, Li, Huijuan, Niu, Zhengping, Wu, Xiru, Xiao, Jiangxi, Jiang, Yuwu, Wang, Jingmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815574/
https://www.ncbi.nlm.nih.gov/pubmed/29451896
http://dx.doi.org/10.1371/journal.pone.0188869