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Article

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Vision research - 15 Dec 2012

Cox Kyle F, Kerr Natalie C, Kedrov Marina, Nishimura Darryl, Jennings Barbara J, Stone Edwin M, Sheffield Val C, Iannaccone Alessandro

Abstract excerpt

PURPOSE: To characterize the phenotype of Bardet-Biedl syndrome (BBS) patients homozygous for the BBS1 M390R mutation. METHODS: Three patients [PT1, F, 27 years old (yo) at last examination, 14-year follow-up (F/U) PT2, F, 15-yo PT3, M, 15-yo, both 1-year F/U] underwent eye exams, Goldmann visual fields (GVFs), dark- (DA) and light-adapted (LA) electroretinograms (ERGs), spectral domain optical coherence...

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Source

Identifiers

PMID: 22940089
DOI: 10.1016/j.visres.2012.08.005

Genes

BBS1
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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