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Article

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

Journal of medical genetics - 1 Feb 2014

Scheidecker Sophie, Etard Christelle, Pierce Nathan W, Geoffroy Véronique, Schaefer Elise, Muller Jean, Chennen Kirsley, Flori Elisabeth, Pelletier Valérie, Poch Olivier, Marion Vincent, Stoetzel Corinne, Strähle Uwe, Nachury Maxence V, Dollfus Hélène

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together w...

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Source

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Identifiers

PMID: 24026985
DOI: 10.1136/jmedgenet-2013-101785
PMCID: PMC3966300

Genes

BBIP1
BBS4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24026985-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).PMID 24026985Read ↗

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.Semantic proximity Read ↗

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.Semantic proximity Read ↗

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.Semantic proximity Read ↗

Bardet-Biedl Syndrome 1 Mutations Differentially Impact BBSome Integrity and its Function in Ciliary TraffickingSemantic proximity Read ↗

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.Semantic proximity Read ↗

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.Semantic proximity Read ↗

Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).Semantic proximity Read ↗

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