Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids

BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Involvement of the optic nerves in hereditary di...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Neurol
Prif Awduron: Shu, Yaqing, Long, Ling, Liao, Siyuan, Yang, Jiezheng, Li, Jianfang, Qiu, Wei, Yang, Yu, Bao, Jian, Wu, Aiming, Hu, Xueqiang, Lu, Zhengqi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2016
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020510/
https://ncbi.nlm.nih.gov/pubmed/27619214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0694-0
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