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BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families

✍ Scribed by Corinne Stoetzel; Virginie Laurier; Laurence Faivre; André Mégarbané; Fabienne Perrin-Schmitt; Alain Verloes; Dominique Bonneau; Jean-Louis Mandel; Mireille Cossee; Hélène Dollfus


Book ID
106251955
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
259 KB
Volume
51
Category
Article
ISSN
1435-232X

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BBS7 and TTC8 (BBS8) mutations play a mi
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Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral b

Clinical and genetic epidemiology of Bar
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Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology