Demain L A et al. Expanding the genotypic spectrum of Perrault syndrome. Clin Genet. 2017;91(2):302-312. PMID: 26970254.
Kosaki R et al. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A. 2018;176(2):404-408. PMID: 29205794
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):1354-1362. PMID: 27650058
Newman W G et al. Perrault Syndrome. In: Adam M P et al. (eds.) GeneReviews. Seattle (WA). 2014(Updated 2018). PMID: 25254289.
Pierce S B et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013:92(4):614-620. PMID: 23541342
Riley L G et al. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2016;28:49-57. PMID: 26537577