Article
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
PloS one - 1 Jan 2013
Chamling Xitiz, Seo Seongjin, Bugge Kevin, Searby Charles, Guo Deng F, Drack Arlene V, Rahmouni Kamal, Sheffield Val C
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and renal defects. Recent findings have associated the etiology of the disease with cilia, and BBS proteins have been implicated in trafficking various ciliary cargo proteins. To date, 17 different genes have been reported for BBS among which BBS1 is...
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