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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. ...Because of NGS, molecular analysis confirmed the clinical diagnosis of PS in 28.6% of our cohort and four novel mutations were found in four Pe
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. ...Because of
The Role of ClpP Protease in Bacterial Pathogenesis and Human Diseases.
Bhandari V, Wong KS, Zhou JL, Mabanglo MF, Batey RA, Houry WA. Bhandari V, et al. ACS Chem Biol. 2018 Jun 15;13(6):1413-1425. doi: 10.1021/acschembio.8b00124. Epub 2018 Jun 1. ACS Chem Biol. 2018. PMID: 29775273 Review.
More recently, ClpP has been found to be involved in various forms of carcinomas and in Perrault syndrome, which is an inherited condition characterized by hearing loss in males and females and by ovarian abnormalities in females. ...
More recently, ClpP has been found to be involved in various forms of carcinomas and in Perrault syndrome, which is an inherit …