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 DoneGisele E. Ishak, Ian A. Glass, Jay Shendure, Stephan C.F. Neuhauss, Chad R. Haldeman-Englert, Dan Doherty, Russell J. Ferland

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63 Scopus citations

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Medicine & Life Sciences