Article
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Nature - 9 Oct 2003
Ansley Stephen J, Badano Jose L, Blacque Oliver E, Hill Josephine, Hoskins Bethan E, Leitch Carmen C, Kim Jun Chul, Ross Alison J, Eichers Erica R, Teslovich Tanya M, Mah Allan K, Johnsen Robert C, Cavender John C, Lewis Richard Alan, Leroux Michel R, Beales Philip L, Katsanis Nicholas
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which...
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