Chapter

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

Alison Ross, Philip L. Beales and Josephine Hill

in Genetics of Obesity Syndromes

Published on behalf of Oxford University Press

Published in print July 2009 | ISBN: 9780195300161
Published online October 2012 | e-ISBN: 9780199975198 | DOI: http://dx.doi.org/10.1093/med/9780195300161.003.0009

Series: Oxford Monographs on Medical Genetics

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

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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.

Chapter.  12971 words.  Illustrated.

Subjects: Clinical Genetics ; Endocrinology and Diabetes

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