EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state-Reference-Cited by-同舟云学术

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

Published:2017-03-15 Issue:5 Volume:38 Page:581-593
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Issa Sarah¹²³,Bondurand Nadege¹²³,Faubert Emmanuelle⁴,Poisson Sylvain⁵,Lecerf Laure¹²,Nitschke Patrick⁶,Deggouj Naima⁷,Loundon Natalie⁸,Jonard Laurence⁵⁹,David Albert¹⁰,Sznajer Yves¹¹,Blanchet Patricia¹²,Marlin Sandrine³⁹,Pingault Veronique¹³⁴⁵¹³

Affiliation:

1. INSERM U955; IMRB; Equipe 6 Créteil France

2. Université Paris 12; Faculté de Médecine; Créteil France

3. INSERM U1163; Institut IMAGINE; Equipe Embryologie et Génétique des Malformations Humaines; Paris France

4. AP-HP; Groupe Henri Mondor-Albert Chenevier; Département de Génétique; Créteil France

5. AP-HP; Hôpital Necker; Laboratoire de Génétique Moléculaire; Paris France

6. INSERM U1163; Institut IMAGINE, Bioinformatique; Paris France

7. ENT Department and Audio-Phonological Center; Cliniques universitaires St Luc; Université catholique de Louvain; Brussels Belgium

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

9. AP-HP; Centre de référence «Surdités génétiques»; Hôpital Necker; Paris France

10. Centre hospitalier universitaire de Nantes; Service de Génétique Médicale; Nantes France

11. Centre de génétique humaine; Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

12. Centre Hospitalier Universitaire de Montpellier; Département de Génétique Médicale; Montpellier France

13. Université Paris-Descartes; Faculté de Médecine; Paris France

Funder

Institut National de la Santé et de la Recherche Médicale

Fondation Maladies Rares

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23206/fullpdf

Reference42 articles.

1. Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients;Abe;Biochemical and Biophysical Research Communications,2000

2. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease;Amiel;Human Molecular Genetics,1996

3. Phorbol ester-inducible genes contain a common cis element recognized by a TPA-modulated trans-acting factor;Angel;Cell,1987

4. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population;Auricchio;Human Molecular Genetics,1996

5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;American Journal of Human Genetics,2007

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