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

• Main Authors: Yan Gong (Author), Xiao Ping Lan (Author), Sheng Guo (Author)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

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...