A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex

被引：0
|
作者：
Mei-hua Yang
Zhong-ke Wang
Yi Huang
Sheng-qing Lv
Chun-qing Zhang
Yuan-yuan Zhu
Qing-wu Yang
Shi-yong Liu
机构：
[1] Army Medical University,Epilepsy Center of PLA, Department of Neurosurgery, Xinqiao Hospital
[2] Children’s Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders
[3] Aegicare (Shenzhen) Technology Co.,undefined
[4] Ltd,undefined
来源：
Child's Nervous System | 2021年 / 37卷
关键词：
Tuberous sclerosis complex,; TSC2,; WGS,; MLPA;
D O I：
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中图分类号：
学科分类号：
摘要：
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页码：253 / 257
页数：4
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