Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.

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第一作者： Yuanfeng,Zhou

第一单位： Department of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China.

作者： Yuanfeng,Zhou ^[1] ; Xinhua,Wang ^[1] ; Ji,Wang ^[1] ; Yifeng,Ding ^[1] ; Yi,Wang ^[1] ; Hao,Li ^[2] ; Rui,Zhao ^[3] ; Bingbing,Wu ^[4]

作者单位： Department of Neurology, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. ^[1] Department of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. ^[2] Department of Neurosurgery, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. zhao007rui007@sina.com. ^[3] The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, No.399, Wanyuan Road, Shanghai, 201102, China. bingbingwu2010@163.com. ^[4]

关键词 Cortical tuber TSC2 Targeted sequencing Tuberous sclerosis complex

主题词儿童(Child);癫痫(Epilepsy);女(雌)性(Female);人类(Humans);突变(Mutation);结节性硬化症(Tuberous Sclerosis)

DOI 10.1007/s00381-021-05059-1

PMID 33517515

发布时间 2022-01-10

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