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...

Full description

Saved in:
Bibliographic Details
Main Authors: 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
Language:Inglês
Published: Elsevier 2008
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items