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IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report
BACKGROUND: IARS2 (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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871752/ https://www.ncbi.nlm.nih.gov/pubmed/36704128 http://dx.doi.org/10.3389/fped.2022.1080664 |