Case study Renal and Cardiovascular Phenotypes in a French

May 29th, 2015
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University of Iowa
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The objective of this study was to analyze the renal and cardiovascular characteristics of 33 patients affected by BBS and to explore possible correlations between genotype and phenotype.

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Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort1. Olivier Imhoff*,2. Vincent Marion,3. Corinne Stoetzel,4. Myriam Durand,5. Muriel Holder,6. Sabine Sigaudy,7. Pierre Sarda,8. Christian P. Hamel**,9. Christian Brandt,10. Hlne Dollfus,11. Bruno Moulin*+Author Affiliations1. *Service de Nphrologie et Transplantation Rnale,2. Service de Gntique Mdicale, Fdration de Gntique,3. Service de Cardiologie, and4. Centre d'Investigation et de Recherche Clinique, Hpitaux Universitaires de Strasbourg, Strasbourg, France;5. Laboratoire de Physiopathologie et pidmiologie des Syndromes Gntiques Rares, EA 3944, Avenir INSERM, Facult de Mdecine de Strasbourg, Strasbourg, France;6. Service de Gntique Mdicale, Hpitaux Universitaires de Lille, Lille, France;7. Dpartement de Gntique Mdicale, Hpital Timone Enfant, Marseille, France; and8. Service de Gntique Mdicale, and9. **Service d'Ophtalmologie, Hpitaux Universitaires de Montpellier, Montpellier, France1. Correspondence:Dr. Bruno Moulin,Service de Nphrologie, Dialyse et Transplantation Rnale, Hpitaux Universitaires de Strasbourg, Hpital Civil, BP 426, Strasbourg, 67091 France.Phone:00 33 369 550 511; Fax:00 33 369 551 721; E-mail:moulin@unistra.frNext SectionSummaryBackground and ObjectivesBardet-Biedl Syndrome (BBS) is

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