A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

被引：3
|
作者：
Rad, Isa Abdi [1 ,2 ]
Vahabi, Ali [2 ]
Akbariazar, Elinaz [2 ]
机构：
[1] Urmia Univ Med Sci, Cellular & Mol Res Ctr, Orumiyeh, Iran
[2] Urmia Univ Med Sci, Dept Med Genet, Orumiyeh, Iran
来源：
CLINICAL CASE REPORTS | 2021年 / 9卷 / 02期
关键词：
GTPBP2; gene; hypotrichosis; microcephaly; muscular dystrophy; WNT; PATHWAY;
D O I：
10.1002/ccr3.3637
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A novel splice site mutation in the GTPBP2 gene was identified by whole-exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
引用
收藏
页码：732 / 736
页数：5
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