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Article

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

American journal of human genetics - 1 Dec 2005

Nishimura Darryl Y, Swiderski Ruth E, Searby Charles C, Berg Erik M, Ferguson Amanda L, Hennekam Raoul, Merin Saul, Weleber Richard G, Biesecker Leslie G, Stone Edwin M, Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS genes representing all known mapped loci have been identified. Mutation analysis of the known BBS genes in BBS patients indicate that additional BBS genes exist and/or...

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Identifiers

PMID: 16380913
DOI: 10.1086/498323
PMCID: PMC1285160

Genes

BBS9

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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Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.PMID 16380913Read ↗

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.Semantic proximity Read ↗

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New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.Semantic proximity Read ↗

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