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Article

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

Clinical journal of the American Society of Nephrology : CJASN - 1 Jan 2011

Imhoff Olivier, Marion Vincent, Stoetzel Corinne, Durand Myriam, Holder Muriel, Sigaudy Sabine, Sarda Pierre, Hamel Christian P, Brandt Christian, Dollfus Hélène, Moulin Bruno

Abstract excerpt

BACKGROUND AND OBJECTIVES: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This...

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Source

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Identifiers

PMID: 20876674
DOI: 10.2215/CJN.03320410
PMCID: PMC3022245

Genes

BBS10
BBS12

Provenance

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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