Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome by Cantagrel Vincent, Silhavy Jennifer L, Bielas Stephanie L, Swistun Dominika, Marsh Sarah E, Bertrand Julien Y, Audollent Sophie, AttiƩ-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, International Joubert Syndrome Related Disorders Study Group, Valente Enza Maria, Woods C Geoffrey, Gleeson Joseph G in American journal of human genetics (2008).

[PMID: 18674751] PubMed

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