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Article

Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.

Gene - 30 Jan 2020

Chakrabarty Sanjiban, Savantre Swheta B, Ramachandra Bhat C, Satyamoorthy Kapaettu

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous ciliopathy with several clinical features including retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioral dysfunction and hypogonadism with wide spectrum of additional features. With multiple phenotypes and heterogeneous distribution, it is unlikely that BBS is caused by single gene defect. We have performed...

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Identifiers

PMID: 31639430
DOI: 10.1016/j.gene.2019.144164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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