Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant

被引：8
|
作者：
Sahly, Ahmed N. [1 ,2 ]
Krochmalnek, Eric [3 ]
St-Onge, Judith [3 ]
Srour, Myriam [1 ,3 ,4 ]
Myers, Kenneth A. [1 ,3 ,4 ]
机构：
[1] McGill Univ, Ctr Hlth, Div Neurol, Dept Pediat,Montreal Childrens Hosp, Glen Site,1001 Blvd Decarie, Montreal, PQ H4A 3J1, Canada
[2] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Jeddah, Saudi Arabia
[3] McGill Univ, Med Ctr, Res Inst, Montreal, PQ, Canada
[4] McGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada
来源：
HUMAN GENETICS | 2020年 / 139卷 / 12期
关键词：
DYNAMIN; PREDICTION; MUTATIONS; PHENOTYPE;
D O I：
10.1007/s00439-020-02224-5
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1575 / 1578
页数：4
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