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Article

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

American journal of human genetics - 1 Sept 2004

Chiang Annie P, Nishimura Darryl, Searby Charles, Elbedour Khalil, Carmi Rivka, Ferguson Amanda L, Secrist Jenifer, Braun Terry, Casavant Thomas, Stone Edwin M, Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chromosome 3 by linkage analysis in a large Israeli Bedouin kindred. The rarity of other families...

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Identifiers

PMID: 15258860
DOI: 10.1086/423903
PMCID: PMC1182025

Genes

ARL6

Provenance

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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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).PMID 15258860Read ↗

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