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Article

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

American journal of human genetics - 1 Mar 2001

Beales P L, Katsanis N, Lewis R A, Ansley S J, Elcioglu N, Raza J, Woods M O, Green J S, Parfrey P S, Davidson W S, Lupski J R

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical heterogeneity of this condition have substantially hindered efforts to positionally clone the numerous BBS genes, because the majority of available pedigrees are small and the disorder cannot be assigned to any of the six...

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Source

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Identifiers

PMID: 11179009
DOI: 10.1086/318794
PMCID: PMC1274474

Genes

BBS2
BBS5
MKKS

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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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.PMID 11179009Read ↗

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.Semantic proximity Read ↗

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Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Semantic proximity Read ↗

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.Semantic proximity Read ↗

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.Semantic proximity Read ↗

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