Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

doi:10.1016/j.ajhg.2008.06.023

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Article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

American journal of human genetics - 1 Aug 2008

Cantagrel Vincent, Silhavy Jennifer L, Bielas Stephanie L, Swistun Dominika, Marsh Sarah E, Bertrand Julien Y, Audollent Sophie, Attié-Bitach Tania, Holden Kenton R, Dobyns William B, Traver David, Al-Gazali Lihadh, Ali Bassam R, Lindner Tom H, Caspary Tamara, Otto Edgar A, Hildebrandt Friedhelm, Glass Ian A, Logan Clare V, Johnson Colin A, Bennett Christopher, Brancati Francesco, Valente Enza Maria, Woods C Geoffrey, Gleeson Joseph G

Abstract excerpt

Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in...

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Identifiers

PMID: 18674751
DOI: 10.1016/j.ajhg.2008.06.023
PMCID: PMC2495072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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