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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 41 Issue 4
Apr.  2025
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Growth retardation and hepatopathy associated with single heterozygous mutations in the IARS1 gene: A case report

DOI: 10.12449/JCH250419
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  • Corresponding author: GONG Chunxiu, chunxiugong@163.com (ORCID: 0000-0002-1262-7383)
  • Received Date: 2024-10-02
  • Accepted Date: 2024-11-25
  • Published Date: 2025-04-25
  • 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.

     

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