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, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.

Human genomics - 11 Apr 2026

Alafghani Riman, Aljeaid Deema, Shaik Noor Ahmad, Banaganapalli Babajan, Elango Ramu, Khard Ghayah, Habhab Wisam, Jadkarim Ghada, Alshaer Dalal Sameer, Almutadares Mahmoud, Alrayes Nuha Mohammad, Issa Noha M

Abstract excerpt

BACKGROUND: Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies caused by pathogenic variants in over 40 genes, mainly encoding ciliary proteins. However, data on JSRD in the Saudi population remain limited. This study aimed to identify novel and reported JSRD-causing variants in Saudi families and analyze their potential functional impact on protein structure...

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 Cerebellum

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

Share to Consanguinity

Share to Exome Sequencing

Share to Eye Abnormalities

Share to Kidney Diseases, Cystic

Share to Retina

Share to Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 41965849
DOI: 10.1186/s40246-026-00953-8
PMCID: PMC13200349

Genes

CEP104
KIF7
TMEM237

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 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

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.PMID 41965849Read ↗

Molecular characterization of Joubert syndrome in Saudi Arabia.Semantic proximity Read ↗

Mutation spectrum of Joubert syndrome and related disorders among ArabsSemantic proximity Read ↗

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.Semantic proximity Read ↗

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

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.Semantic proximity Read ↗

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneitySemantic proximity Read ↗

Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.Semantic proximity Read ↗

Genotype-phenotype correlates in Joubert syndrome: A review.Semantic proximity Read ↗

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

Clinical and genetic characteristics of 36 children with Joubert syndromeSemantic proximity Read ↗

KIAA0586 is Mutated in Joubert Syndrome.Semantic proximity Read ↗

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.Semantic proximity Read ↗

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