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

页码：732 / 736

页数：5

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