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 F. Alswaid, Hamit Özyurek, Sel Dibooglu, Edgar A. Otto, Yangfan Liu, Erica Ellen Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael DorschnerMeral Topçu, Elaine H. Zackai, Phillip Rosenthal, Kelly N. Owens, Elias 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*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

195 Scopus citations

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology