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Article

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

Journal of human genetics - 1 Jan 2006

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

Abstract excerpt

BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disorder. To date, only three families mutated in the BBS8 gene have been reported. Here, we report on...

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PMID: 16308660
DOI: 10.1007/s10038-005-0320-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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