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