Associated Papers
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Upadia J et al.
Clinical Case Reports, 2022
IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.
Gong Y et al.
Frontiers in Pediatrics, 2022
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G et al.
Haematologica, 2021
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona B et al.
Bmc Medical Genetics, 2018
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2017
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