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

A novel variant in C5ORF42 gene is associated with Joubert syndrome.

Molecular biology reports - 1 May 2020

Mardani Rajab, Taghizadeh Eskandar, Taheri Forough, Raeisi Mohammadali, Karimzadeh Mohammad Reza, Rostami Daryoush, Ferns Gordon A, Ghayour-Mobarhan Majid

Abstract excerpt

Joubert syndrome (JS) disease is a clinically and genetically heterogeneous disorder with mutations in more than 35 genes involved in its pathogenicity. Molecular genetic methods including next generation sequencing (NGS) and Sanger sequencing are effective techniques used for identifying rare genetic variants that have a strong effect on disease pathogenesis. In this study, we tested a large pedigree with a...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Brain

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

Share to Cerebellum

Share to Exome Sequencing

Share to Eye Abnormalities

Share to Kidney Diseases, Cystic

Share to Membrane Proteins

Share to Retina

Source

Identifiers

PMID: 32367316
DOI: 10.1007/s11033-020-05465-9

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

A novel variant in C5ORF42 gene is associated with Joubert syndrome.PMID 32367316Read ↗

Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.Semantic proximity Read ↗

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.Semantic proximity Read ↗

Joubert syndrome: genotyping a Northern European patient cohort.Semantic proximity Read ↗

C5orf42 is the major gene responsible for OFD syndrome type VI.Semantic proximity Read ↗

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.Semantic proximity Read ↗

[Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene].Semantic proximity Read ↗

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.Semantic proximity Read ↗

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Semantic proximity Read ↗

[Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290].Semantic proximity Read ↗

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.Semantic proximity Read ↗

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.Semantic proximity Read ↗

[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].Semantic proximity Read ↗

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