Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis-Reference-Cited by-同舟云学术

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

Published:2013-04-05 Issue:2 Volume:85 Page:172-177
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

M'hamdi O.¹,Redin C.²,Stoetzel C.³,Ouertani I.¹⁴,Chaabouni M.¹⁴,Maazoul F.⁴,M'rad R.¹⁴,Mandel J.L.²⁵⁶,Dollfus H.³⁷,Muller J.²⁵,Chaabouni H.¹⁴

Affiliation:

1. Faculté de médecine de Tunis; Université de Tunis El-Manar; Tunis Tunisie

2. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U964; Université de Strasbourg; Illkirch France

3. Faculté de Médecine, Université Louis Pasteur de Strasbourg; Laboratoire de Génétique Médicale EA3949 (Equipe AVENIR-Inserm); Strasbourg France

4. Hôpital Charles Nicolle de Tunis; Service des Maladies Congénitales et Héréditaires; Tunis Tunisie

5. Hôpitaux universitaires de Strasbourg; Laboratoire de Diagnostic Génétique; Strasbourg France

6. Chaire de Génétique Humaine; Collège de France; Illkirch France

7. Hôpitaux Universitaires de Strasbourg; Service de Génétique Médicale/Centre de Référence pour les Affections Génétiques Ophtalmologiques; Strasbourg France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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4. High incidence of Bardet-Biedl syndrome among the Bedouin;Farag;Clin Genet,1989

5. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis;Nachury;Cell,2007

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