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CLCN2-related leukoencephalopathy: a case report and review of the literature

BACKGROUND: Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukodystrophy....

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Detalles Bibliográficos
Autores principales:	Guo, Zhuoxin, Lu, Tingting, Peng, Lisheng, Cheng, Huanhuan, Peng, Fuhua, Li, Jin, Lu, Zhengqi, Chen, Shaoqiong, Qiu, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617604/ https://www.ncbi.nlm.nih.gov/pubmed/31291907 http://dx.doi.org/10.1186/s12883-019-1390-7

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