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Updated: May 16, 2025

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与IARS1相关疾病的非典型表现:扩大表型和基因型

Parith Wongkittichote1,2, Kira E Jonatzke3, Benjamin T Hyde3

  • 1Department of Pediatrics, Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri USA.

JIMD reports
|May 14, 2025
PubMed
概括

在IARS1的遗传变异导致增长迟缓,智力障碍和肝脏问题 (GRIDHH). 这项研究确定了IARS1变异的新患者,扩大了疾病.

关键词:
在IARS1中.氨基酸-tRNA合成酶的氨基酸.氨基酸-tRNA合成酶的缺陷增长迟缓,智力发育受损,低血压和肝病变.免疫调节失调 免疫调节失调这种异质素是isoleucine

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