Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

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 diso...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2495072/
https://ncbi.nlm.nih.gov/pubmed/18674751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.06.023
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