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Article

Molecular characterization of Joubert syndrome in Saudi Arabia.

Human mutation - 1 Oct 2012

Alazami Anas M, Alshammari Muneera J, Salih Mustafa A, Alzahrani Fatema, Hijazi Hadia, Seidahmed Mohammed Z, Abu Safieh Leen, Aldosary Mazhor, Khan Arif O, Alkuraya Fowzan S

Abstract excerpt

Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this condition is significant with 16 genes identified to date. We have used a combination of autozygome-guided candidate gene mutation analysis and exome sequencing to identify the causative mutation in a series of 12 families. The autozygome approach...

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

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Source

Identifiers

PMID: 22693042
DOI: 10.1002/humu.22134

Genes

TCTN1
AHI1

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.

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