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

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

Ophthalmic genetics - 1 Sept 2016

Khan Arif O, Decker Eva, Bachmann Nadine, Bolz Hanno J, Bergmann Carsten

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a pleiotropic and clinically and genetically heterogeneous ciliopathy. Primary features are early-onset retinal dystrophy that is typically rod-cone, obesity, polydactyly, renal abnormalities, hypogonadism, and learning difficulties, but most patients do not present with the full clinical picture. In a BBS patient from a consanguineous marriage we performed next-generation...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Bardet-Biedl Syndrome
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to DNA Mutational Analysis

Share to Genes, Recessive

Share to Proteins

Share to Retinal Dystrophies

Source

Identifiers

PMID: 26854863
DOI: 10.3109/13816810.2015.1066830

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.PMID 26854863Read ↗

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).Semantic proximity Read ↗

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

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

Non-Syndromic Cone-Predominant Retinal Degeneration Associated with Homozygosity for the M390R Mutation in BBS1 GeneSemantic proximity Read ↗

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

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

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

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

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.Semantic proximity Read ↗

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.Semantic proximity Read ↗

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

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.Semantic proximity Read ↗

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