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Article

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

American journal of human genetics - 1 Jul 2002

Katsanis Nicholas, Eichers Erica R, Ansley Stephen J, Lewis Richard Alan, Kayserili Hülya, Hoskins Bethan E, Scambler Peter J, Beales Philip L, Lupski James R

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci (BBS1-BBS6) have been mapped...

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Source

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Identifiers

PMID: 12016587
DOI: 10.1086/341031
PMCID: PMC384990

Genes

BBS4
BBS1
BBS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12016587-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.PMID 12016587Read ↗

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).Semantic proximity Read ↗

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Semantic proximity Read ↗

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Semantic proximity Read ↗

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.Semantic proximity Read ↗

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

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.Semantic proximity Read ↗

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Semantic proximity Read ↗

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.Semantic proximity Read ↗

Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.Semantic proximity Read ↗

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.Semantic proximity Read ↗

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