Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis, characterized by macrocephaly, delayed motor and...

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Dades bibliogràfiques
Publicat a:World J Pediatr
Autors principals: Shi, Zhen, Yan, Hui-Fang, Cao, Bin-Bin, Guo, Mang-Mang, Xie, Han, Gao, Kai, Xiao, Jiang-Xi, Yang, Yan-Ling, Xiong, Hui, Gu, Qiang, Li, Ming, Wu, Ye, Jiang, Yu-Wu, Wang, Jing-Min
Format: Artigo
Idioma:Inglês
Publicat: Springer Singapore 2019
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785595/
https://ncbi.nlm.nih.gov/pubmed/31372844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12519-019-00284-w
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