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Article

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

Ophthalmic genetics - 1 Sept 2008

Cannon Paul S, Clayton-Smith Jill, Beales Philip L, Lloyd I Christopher

Abstract excerpt

BACKGROUND: To report the clinical findings in two brothers presenting with a pigmentary retinopathy and post-axial polydactyly, who were found to have a mutation in the BBS1 gene, confirming a diagnosis of Bardet-Biedl syndrome (BBS). MATERIALS AND METHODS: Documentation of the clinical history, electrophysiological investigations, clinical examination and ocular findings of two brothers born to...

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Source

Identifiers

PMID: 18766993
DOI: 10.1080/13816810802216464

Genes

BBS1

Variants

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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Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.PMID 18766993Read ↗

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