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

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.

The Journal of international medical research - 1 Aug 2024

Li Mojiang, Li Yingshu, Wen Ting, Zhou Haiyan, Xie Wanqin

Abstract excerpt

Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous clinical manifestations. The present study reports the clinical features of a novel compound heterozygous genotype of the BBS2 gene in a 14-year-old girl and her 6-year-old sister who had complaints of early-onset low vision. Fundus images revealed retinitis pigmentosa-like changes, and full-field electroretinograms showed no...

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 Child
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Heterozygote

Share to Pedigree

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39175229
DOI: 10.1177/03000605241274239
PMCID: PMC11344895

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.PMID 39175229Read ↗

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

Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the BBS10 Gene in Chinese People With Bardet Biedl syndromeSemantic proximity Read ↗

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.Semantic proximity Read ↗

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

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

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.Semantic proximity Read ↗

Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.Semantic proximity Read ↗

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

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

Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.Semantic proximity Read ↗

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

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.Semantic proximity Read ↗

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