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Akizu N, Silhavy J, Rosti R, Scott E, Fenstermaker A, Schroth J, Zaki M, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson J. Mutations in CSPP1 Lead to Classical Joubert Syndrome. The American Journal of Human Genetics. 2014 Jan;94(1):80–6. doi: 10.1016/j.ajhg.2013.11.015. |