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Article

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

American journal of medical genetics. Part A - 30 Jan 2005

Héon Elise, Westall Carol, Carmi Rivka, Elbedour Khalil, Panton Carole, Mackeen Leslie, Stone Edwin M, Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis pigmentosa (RP), hypogonadism, digit and renal anomalies, obesity, and a variable degree of mental retardation characterize the disorder. Eight different loci have been identified on 2q31(BBS5), 3p13 (BBS3), 4q27 (BBS7), 11q13 (BBS1), 14q32 (BBS8), 15q22.3 (BBS4), 16q21 (BBS2), and 20p12...

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Source

Identifiers

PMID: 15690372
DOI: 10.1002/ajmg.a.30466

Genes

BBS2
BBS4
BBS1
BBS5
BBS7
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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