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Article

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

American journal of medical genetics. Part A - 15 Feb 2008

Hjortshøj Tina Duelund, Grønskov Karen, Philp Alisdair R, Nishimura Darryl Y, Adeyemo Adebowale, Rotimi Charles N, Sheffield Val C, Rosenberg Thomas, Brøndum-Nielsen Karen

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Identifiers

PMID: 18203199
DOI: 10.1002/ajmg.a.32136
PMCID: PMC2578871

Genes

BBS5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.PMID 18203199Read ↗

The major gene for Bardet-Biedl syndrome is BBS1.Semantic proximity Read ↗

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.Semantic proximity Read ↗

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].Semantic proximity Read ↗

Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.Semantic proximity Read ↗

Genetics of human Bardet-Biedl syndrome, an updates.Semantic proximity Read ↗

Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS).Semantic proximity Read ↗

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read ↗

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

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.Semantic proximity Read ↗

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

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

Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype.Semantic proximity Read ↗

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