临床肝胆病杂志2025，Vol.41Issue(4)：731-735,5.DOI:10.12449/JCH250419
IARS1单杂合突变相关生长迟缓和肝病1例报告
Growth retardation and hepatopathy associated with single heterozygous mutations in the IARS1 gene:A case report
李阳 1毛迪 1魏丽亚 1巩纯秀1
作者信息
- 1. 国家儿童医学中心,首都医科大学附属北京儿童医院内分泌遗传代谢科,北京 100045
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摘要
Abstract
Mutations in the IARS1 gene are rare in clinical practice,and up to now,only ten cases with detailed clinical and genetic data have been recorded in the literature.This article reports a case of growth retardation,intellectual developmental disorder,hypotonia,and hepatopathy(GRIDHH)associated with single heterozygous mutations in the IARS1 gene and summarizes the clinical and genetic features of GRIDHH,thereby expanding the genetic spectrum of GRIDHH.关键词
移码突变/肝疾病/儿童Key words
Frameshift Mutation/Liver Diseases/Child引用本文复制引用
李阳,毛迪,魏丽亚,巩纯秀..IARS1单杂合突变相关生长迟缓和肝病1例报告[J].临床肝胆病杂志,2025,41(4):731-735,5.
