Condition: PERRAULT SYNDROME 4


rs864309642 in LARS2 gene and PERRAULT SYNDROME 4 PMID 26657938 2016 First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

rs199589947 in LARS2;LARS2-AS1 gene and PERRAULT SYNDROME 4 PMID 23541342 2013 Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.