Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2023

Morohashi Tamaki, Hayashi Takaaki, Mizobuchi Kei, Nakano Tadashi, Morioka Ichiro

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive impairment, hypogonadism and/or genitourinary malformations, and kidney abnormalities. At least 21 genes associated with BBS have been reported. To date, BBS associated with BBS12 variants has never been described in the Japanese...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bardet-Biedl Syndrome
Share to Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electroretinography

Share to Mutation

Share to Polydactyly

Source

Identifiers

PMID: 36574078
DOI: 10.1007/s10633-022-09915-6

Genes

BBS12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.PMID 36574078Read ↗

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

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.Semantic proximity Read ↗

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.Semantic 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 splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.Semantic proximity Read ↗

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Semantic proximity Read ↗

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.Semantic proximity Read ↗

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

Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genesSemantic proximity Read ↗

Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.Semantic proximity Read ↗

Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.Semantic proximity Read ↗

Molecular and Phenotypic Characteristics of Bardet-Biedl Syndrome in Chinese PatientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.