Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Reference

Schwartzentruber, Jeremy, et al. “Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-TRNA SynthetaseIARS2in Patients With Cataracts, Growth Hormone Deficiency With Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or With Leigh Syndrome”. Human Mutation, Aug. 2014, p. n/a–n/a, https://doi.org/10.1002/humu.22629.

PubMed Reference Number (PMID)

25130867