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The Clinical, Molecular, and Functional Genetics of Bardet-Biedl Syndrome 

The Clinical, Molecular, and Functional Genetics of Bardet-Biedl Syndrome
Chapter:
The Clinical, Molecular, and Functional Genetics of Bardet-Biedl Syndrome
Author(s):

Alison Ross

, Philip L. Beales

, and Josephine Hill

DOI:
10.1093/med/9780195300161.003.0009
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date: 22 April 2021

The once obscure Bardet-Biedl syndrome (BBS) has risen to prominence within the last few years owing to revelations of dysfunctional primary cilia. Given the panoply of organ involvement, the study of BBS has become a paradigm for investigating cilia influences on diverse tissue development and additionally provides a model for understanding complex disease inheritance. In this chapter we provide a comprehensive review of the syndrome, its etiology, and recent developments, especially in the context of cilia and cellular function.

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