Publication
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G. Bönnemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian A. Glass, Jay Shendure, Stephan C.F. Neuhauss, Chad R. Haldeman-Englert, Dan Doherty, Russell J. Ferland
The American Journal of Human Genetics, February 2014, Elsevier
DOI: 10.1016/j.ajhg.2014.01.003