IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report
BackgroundIARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) have a very broad and variable clinical phenotype sp...
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| Format: | Book |
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Frontiers Media S.A.,
2023-01-01T00:00:00Z.
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