Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

✍ Scribed by 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.

• Book ID: 121899346
• Publisher: American Society of Human Genetics
• Year: 2014
• Tongue: English
• Weight: 36 KB
• Volume: 94
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2014.01.003