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2008•The American Journal of Human GeneticsOpen access

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L. M. Coene, Stef J.F. Letteboer, Sylvia E. C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman Alswaid, Hamìt Özyürek, Sel Dibooğlu, Edgar A. Otto, Yangfan Liu, Erica E. Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael O. Dorschner, Meral Topçu, Elaine H. Zackai, Phillip Rosenthal, Kelly N. Owens, Nicholas Katsanis, John B. Vincent, Friedhelm Hildebrandt, Edwin W. Rubel, David W. Raible, Nine V.A.M. Knoers, Phillip F. Chance, Ronald Roepman, Cecilia B. Moens, Ian A. Glass, Dan Doherty

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Key concepts: Ciliopathy, Joubert syndrome, Basal body, Ciliopathies, Cell biology, Basal (medicine), Cilium, Biology

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CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 — Research Paper | ScholarLens