HARS2

Publications

Demain LAM et al. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. J Hum Genet. 2020;65(3):305-11. PMID: 31827252.

Karstensen HG et al. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. Eur J Med Genet. 2020;63(3):103733. PMID: 31449985.

Lerat J et al. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. Hum Mutat. 2016;37(12):1354-62. PMID: 27650058.

Pierce SB et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011;108(16):6543-8. PMID: 21464306.