A case of neurodevelopmental disorder of microcephaly-epilepsy-cortical atrophy caused by VARS1 gene mutation and molecular genetic analysis

被引：0

作者：

童文佳 ^{[1
]}

机构：

[1] Pediatr Intensive Care Unit,Anhui Prov Children’s Hosp

来源：

ChinaMedicalAbstracts(InternalMedicine) | 2023年 / 40卷 / 01期

关键词：

D O I：

暂无

中图分类号：

R748 [儿童神经病];

学科分类号：

1002 ;

摘要：

Objective To investigate the clinical characteristics and genotypes of neurodevelopmental disorders of microcephaly-epilepsy-cortical atrophy caused by VARS1gene mutation.Methods The clinical data of a child with VARS1 gene mutation who visited Anhui Children’s Hospital in December 2021 were reviewed and followed up.Using"VARSl""VARS""VALYL-tRNA synthetase""Valyl-tRNA synthetase"as the search terms,we retrieved the literatures from the Chinese data bases(China National Knowledge Infrastructure database,

引用

页码：59 / 60

页数：2