SOX10mutations mimic isolated hearing loss-Reference-Cited by-同舟云学术

SOX10mutations mimic isolated hearing loss

Published:2014-11-06 Issue:4 Volume:88 Page:352-359
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Pingault V.¹²³,Faubert E.¹,Baral V.²³,Gherbi S.⁴,Loundon N.⁴⁵,Couloigner V.⁴⁵,Denoyelle F.⁴⁵,Noël-Pétroff N.⁶,Ducou Le Pointe H.⁷,Elmaleh-Bergès M.⁸,Bondurand N.²³,Marlin S.⁴

Affiliation:

1. Département de Génétique; Hôpital Henri Mondor, AP-HP; Créteil France

2. Equipe 11; INSERM, U955; Créteil France

3. UMR_S955; Université Paris-Est, UPEC; Créteil France

4. Service de Génétique; Centre de référence Surdités Génétiques; Paris France

5. Service d'ORL; Hôpital Necker, AP-HP; Paris France

6. Service d'ORL; Hôpital Robert Debré, AP-HP; Paris France

7. Service de radiologie; Hôpital Armand Trousseau, AP-HP; Paris France

8. Service de radiologie; Hôpital Robert Debré, AP-HP; Paris France

Funder

Agence Nationale de la Recherche

National Institute of Health and Medical Research

Assistance Publique Hôpitaux de Paris

Association s'entendre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Genetics: advances in genetic testing for deafness;Shearer;Curr Opin Pediatr,2012

2. Review and update of mutations causing Waardenburg syndrome;Pingault;Hum Mutat,2010

3. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am J Hum Genet,2007

4. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations;Inoue;Nat Genet,2004

5. Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness;Pingault;Am J Hum Genet,2013

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