IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report

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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Bibliographic Details
Main Authors: Yan Gong, Xiao Ping Lan, Sheng Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
CAGSSS
IARS2
sideroblastic anemia
hypoparathyroidism
mitochondrial disease
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1080664/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.1080664/full

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