High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3-Reference-Cited by-同舟云学术

High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

Published:2020-06-22 Issue:2 Volume:98 Page:166-171
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Gouronc Aurélie¹,Zilliox Vincent²,Jacquemont Marie‐Line³,Darcel Françoise⁴,Leuvrey Anne‐Sophie¹,Nourisson Elsa¹,Antin Manuela¹,Alessandri Jean‐Luc⁵,Doray Bérénice⁶,Gueguen Paul⁶,Payet Frédérique⁶,Randrianaivo Hanitra³,Stoetzel Corinne⁷,Scheidecker Sophie¹⁷,Flodrops Hugues⁸,Dollfus Hélène⁷⁹¹⁰,Muller Jean¹²⁷^ORCID

Affiliation:

1. Laboratoires de Diagnostic GénétiqueHôpitaux Universitaires de Strasbourg Strasbourg France

2. Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363)Hôpitaux Universitaires de Strasbourg Strasbourg France

3. UF de Génétique Médicale, GHSRCHU de La Réunion Saint Pierre La Réunion France

4. Service des Maladies Neurologiques RaresGHSR, CHU de La Réunion Saint Pierre La Réunion France

5. Pole Femme‐Mère‐Enfants, CH Félix GuyonCHU de La Réunion Saint‐Denis La Réunion France

6. Service de Génétique, CH Félix GuyonCHU de La Réunion Saint‐Denis La Réunion France

7. Laboratoire de Génétique MédicaleINSERM, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg Faculté de médecine de Strasbourg Strasbourg France

8. Service de Pédiatrie, GHSRCHU de La Réunion Saint Pierre La Réunion France

9. Centre de Référence pour les affections rares en génétique ophtalmologique, CARGO, Filière SENSGENEHôpitaux Universitaires de Strasbourg Strasbourg France

10. Service de Génétique MédicaleInstitut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg Strasbourg France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13768

Reference20 articles.

1. Ciliopathies: an expanding disease spectrum

2. High incidence of Bardet Biedl syndrome among the Bedouin

3. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

4. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

5. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

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