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Article

Genotype-phenotype correlations in Bardet-Biedl syndrome.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2012

Daniels Anthony B, Sandberg Michael A, Chen Jianjun, Weigel-DiFranco Carol, Fielding Hejtmancic J, Berson Eliot L

Abstract excerpt

OBJECTIVE: To determine whether mutations in different Bardet-Biedl syndrome (BBS) genes result in different ocular phenotypes. METHODS: Thirty-seven patients from 31 families were enrolled who met the clinical criteria for BBS and for whom a BBS mutation had been identified. Seventeen patients harbored mutations in BBS1, 10 in BBS10, and 10 in other genes (BBS2, BBS3, BBS5, BBS7, and BBS12). All the patients...

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Source

Identifiers

PMID: 22410627
DOI: 10.1001/archophthalmol.2012.89

Genes

BBS1
ERG
BBS10
BBS12
BBS2
BBS5
BBS7

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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