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Article

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

American journal of medical genetics. Part A - 1 Oct 2010

Dulfer Eelco, Hoefsloot Lies H, Timmer Albertus, Mom Constantijne, van Essen Anthonie J

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Source

Identifiers

PMID: 20827784
DOI: 10.1002/ajmg.a.33650

Genes

BBS10
BBS12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.PMID 20827784Read ↗

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

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

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

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

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsSemantic proximity Read ↗

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

The oligogenic properties of Bardet-Biedl syndrome.Semantic proximity Read ↗

Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read ↗

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Semantic proximity Read ↗

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

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