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Article

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

American journal of medical genetics. Part A - 1 Feb 2005

Moore Susan J, Green Jane S, Fan Yanli, Bhogal Ashvinder K, Dicks Elizabeth, Fernandez Bridget A, Stefanelli Mark, Murphy Christopher, Cramer Benvon C, Dean John C S, Beales Philip L, Katsanis Nicholas, Bassett Anne S, Davidson William S, Parfrey Patrick S

Abstract excerpt

Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype-phenotype correlation. The study involved 46...

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Identifiers

PMID: 15637713
DOI: 10.1002/ajmg.a.30406
PMCID: PMC3295827

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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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