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Brief Communication

Nature Genetics 38, 521–524 (1 May 2006) | doi:10.1038/ng1771

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel , Virginie Laurier , Erica E Davis , Jean Muller , Suzanne Rix , Jos|[eacute]| L Badano , Carmen C Leitch , Nabiha Salem , Eliane Chouery , Sandra Corbani , Nadine Jalk , Serge Vicaire , Pierre Sarda , Christian Hamel , Didier Lacombe , Muriel Holder , Sylvie Odent , Susan Holder , Alice S Brooks , Nursel H Elcioglu , Eduardo D Silva , B|[eacute]|atrice Rossillion , Sabine Sigaudy , Thomy J L de Ravel , Richard Alan Lewis , Bruno Leheup , Alain Verloes , Patrizia Amati-Bonneau , Andr|[eacute]| M|[eacute]|garban|[eacute]| , Olivier Poch , Dominique Bonneau , Philip L Beales , Jean-Louis Mandel , Nicholas Katsanis & H|[eacute]|l|[egrave]|ne Dollfus

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40–50% of the total mutational load.