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2001 1
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LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A. Carminho-Rodrigues MT, et al. BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. BMC Med Genet. 2020. PMID: 32423379 Free PMC article. Review.
BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. ...To date, 19 variants have been reported in 18 individuals wi …
BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearin …
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S. Lerat J, et al. Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Hum Mutat. 2016. PMID: 27650058 Review.
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sens …
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. …
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein sy …
More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1 …
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.
Amor DJ, Delatycki MB, Gardner RJ, Storey E. Amor DJ, et al. Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11170090 Review.
Inheritance in most cases appears to be autosomal recessive, and associated features include deafness, intellectual impairment, and neuropathy. Typically, onset of ataxia is in the first decade and hypogonadism results in primary amenorrhoea in females. ...The association …
Inheritance in most cases appears to be autosomal recessive, and associated features include deafness, intellectual impairment, and n …