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- W1044297626 endingPage "3491" @default.
- W1044297626 startingPage "3479" @default.
- W1044297626 abstract "Bardet–Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. From the analysis of the mutational burden in patients to the functional characterization of the BBS proteins, this syndrome has become a model for both understanding oligogenic patterns of inheritance and the biology of a particular cellular organelle: the primary cilium. Here we briefly review the genetics of BBS to then focus on the function of the BBS proteins, not only in the context of the cilium but also highlighting potential extra‐ciliary roles that could be relevant to the etiology of the disorder. Finally, we provide an overview of how the study of this rare syndrome has contributed to the understanding of cilia biology and how this knowledge has informed on the cellular basis of different clinical manifestations that characterize BBS and the ciliopathies." @default.
- W1044297626 created "2016-06-24" @default.
- W1044297626 creator A5056739961 @default.
- W1044297626 creator A5059092545 @default.
- W1044297626 creator A5063646093 @default.
- W1044297626 creator A5087188238 @default.
- W1044297626 date "2015-07-29" @default.
- W1044297626 modified "2023-10-09" @default.
- W1044297626 title "Bardet-Biedl syndrome: Is it only cilia dysfunction?" @default.
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