Kategorie:
PubID
Gen
MIM
23541340 Jenkinson, E. M. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am. J. Hum. Genet. 92: 605-613, 2013.
CLPP
517579 Pallister, P. D., Opitz, J. M. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am. J. Med. Genet. 4: 239-246, 1979.
HARS2
20673864 Pierce, S. B et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome. Am. J. Hum. Genet. 87: 282-288, 2010.
HSD17B4
23541342 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. 92: 614-620, 2013.
LARS2