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

著者: Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas, Dominika Swistun, Sarah Marsh, Julien Bertrand, Sophie Audollent, Tania Attié‐Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al‐Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian A. Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson - The American Journal of Human Genetics 2008 被引用: 399