Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy K Tuz, R Bachmann-Gagescu, DR O’Day, K Hua, CR Isabella, IG Phelps, ... The American Journal of Human Genetics 94 (1), 62-72, 2014 | 129 | 2014 |