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Bardet-Biedl syndrome: Is it only cilia dysfunction?

FEBS letters - 14 Nov 2015

Novas Rossina, Cardenas-Rodriguez Magdalena, Irigoín Florencia, Badano Jose L

Abstract excerpt

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....

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PMID: 26231314
DOI: 10.1016/j.febslet.2015.07.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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