Article
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jun 2004
Mykytyn Kirk, Mullins Robert F, Andrews Michael, Chiang Annie P, Swiderski Ruth E, Yang Baoli, Braun Terry, Casavant Thomas, Stone Edwin M, Sheffield Val C
Abstract excerpt
The functions of the proteins encoded by the Bardet-Biedl syndrome (BBS) genes are unknown. Mutations in these genes lead to the pleiotropic human disorder BBS, which is characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Secondary features include diabetes mellitus and hypertension. Recently, it has been suggested that the BBS phenotypes...
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