Authors: Brancati, Francesco Barrano, Giuseppe Silhavy, Jennifer L. Marsh, Sarah E. Travaglini, Lorena Bielas, Stephanie L. Amorini, Maria Zablocka, Dominika Kayserili, Hulya Al-Gazali, Lihadh Bertini, Enrico Boltshauser, Eugen D'Hooghe, Marc Fazzi, Elisa Fenerci, Elif Y. Hennekam, Raoul C.M. Kiss, Andrea Lees, Melissa M. Marco, Elysa Phadke, Shubha R. Gleeson, Joseph G

Citation: Brancati, Francesco et al., CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome.Related Disorders, American journal of human genetics , 81(1), 2007, pp. 104-113