Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction

被引：0
|
作者：
Bird, Miranda F. [1 ]
Myers, Kenneth A. [2 ,3 ,4 ]
机构：
[1] McGill Univ, Fac Med & Hlth Sci, Quebec City, PQ, Canada
[2] McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Quebec City, PQ, Canada
[3] McGill Univ, Montreal Childrens Hosp, Hlth Ctr, Div Neurol,Dept Pediat, Quebec City, PQ, Canada
[4] McGill Univ, Hlth Ctr, Dept Neurol & Neurosurg, Quebec City, PQ, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2023年 / 191卷 / 01期
关键词：
dystonia; ingressive speech; spasmodic dysphonia; THAP1; MUTATIONS; DYT6;
D O I：
10.1002/ajmg.a.62985
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：289 / 291
页数：3
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