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

Background: (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase.

A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated gene.

Background: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder. Autosomal dominant CMD (AD-CMD) is caused by mutations in the gene. Affected individuals typically have distinctive facial features including progressive thickening of the craniofacial bones.