Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

被引：5
|
作者：
Perrier, Stefanie [1 ,2 ]
Gauquelin, Laurence [3 ,4 ]
Wambach, Jennifer A. [5 ]
Bernard, Genevieve [1 ,2 ,6 ,7 ,8 ,9 ]
机构：
[1] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[2] McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada
[3] CHUL, Dept Pediat, Div Pediat Neurol, Quebec City, PQ, Canada
[4] Univ Laval, CHU Quebec, Ctr Mere Enfant Soleil, Quebec City, PQ, Canada
[5] Washington Univ, St Louis Childrens Hosp, Sch Med, Div Newborn Med,Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA
[6] McGill Univ, Dept Pediat, Montreal, PQ, Canada
[7] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[8] Montreal Childrens Hosp, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada
[9] McGill Univ, Hlth Ctr, Montreal, PQ, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 02期
基金：
加拿大健康研究院; 美国国家卫生研究院;
关键词：
WIEDEMANN-RAUTENSTRAUCH SYNDROME; NEONATAL PROGEROID SYNDROME; MUTATIONS;
D O I：
10.1002/ajmg.a.62553
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：708 / 712
页数：5
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