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.