A de novo ATXN2L variant in a child with developmental delay and macrocephaly

被引：2
|
作者：
Alzahrani, Fatema [1 ]
Albatti, Turki H. [2 ]
Alkuraya, Fowzan S. [1 ,3 ]
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
[2] Abdullatif Al Fozan Ctr Autism, Al Khobar, Saudi Arabia
[3] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 03期
关键词：
ATAXIN-2;
D O I：
10.1002/ajmg.a.62007
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：949 / 951
页数：3
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