医学
突变
错义突变
共济失调
基因突变
外显子组测序
病理
作者
Na Li,Chong Qiao,Yuan Lv,Tian Yang,Hao Liu,Wenqian Yu,Caixia Liu
出处
期刊:World Journal of Clinical Cases
[Baishideng Publishing Group Co (World Journal of Clinical Cases)]
日期:2019-11-06
卷期号:7 (21): 3655-3661
被引量:1
标识
DOI:10.12998/wjcc.v7.i21.3655
摘要
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report
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