An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature-Reference-Cited by-同舟云学术

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Published:2016-10-07 Issue:12 Volume:37 Page:1354-1362
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lerat Justine¹,Jonard Laurence²,Loundon Natalie³,Christin-Maitre Sophie⁴,Lacombe Didier⁵,Goizet Cyril⁵,Rouzier Cécile⁶,Van Maldergem Lionel⁷,Gherbi Souad⁸,Garabedian Eréa-Nöel³,Bonnefont Jean- Paul²,Touraine Philippe⁹,Mosnier Isabelle¹⁰,Munnich Arnold¹¹,Denoyelle Françoise³,Marlin Sandrine⁸

Affiliation:

1. Otorhinolaryngologie et chirurgie cervico-faciale; Centre Hospitalier Universitaire Dupuytren; Limoges France

2. Laboratoire de Génétique Moléculaire, Centre de Référence des Surdités Génétiques; Hôpital Necker; AP-HP; Paris France

3. Otorhinolaryngologie pédiatrique; Centre de Référence des Surdités Génétiques; Hôpital Necker; AP-HP; Paris France

4. Endocrinologie; Hôpital Saint-Antoine; AP-HP; Paris France

5. Génétique Médicale; Centre Hospitalier Universitaire Pellegrin; Bordeaux France

6. Génétique Médicale; Centre Hospitalier Universitaire; Hôpital l'Archet; Nice France

7. Génétique Médicale; Centre Hospitalier Universitaire; Hôpital Saint Jacques; Besançon France

8. Génétique Médicale; Centre de Référence des Surdités Génétiques; Hôpital Necker; AP-HP; Paris France

9. Endocrinologie et Médecine de la Reproduction; Hôpital de la Pitié Salpétrière; AP-HP; Paris France

10. Otorhinolaryngologie et chirurgie cervico-faciale; Hôpital de la Pitié Salpétrière; AP-HP; Paris France

11. Génétique Médicale; Hôpital Necker; AP-HP; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference49 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder;Agrawala;J Pediatr Endocrinol Metab,2015

3. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault syndrome type-3;Ahmed;J Neurol Sci,2015

4. A rare cause for primary amenorrhea: sporadic Perrault syndrome;Ameen;Indian J Endocrinol Metab,2012

5. New variant of familial ataxia with hypergonadotrophic hypogonadism and sensorineural deafness;Amor;Am J Med Genet,2001

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