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
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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,
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页码：59 / 60
页数：2
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