CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
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author: Bruno Dallapiccola, Enza Maria Valente, Francesco Brancati, Lihadh Al-Gazali, Hülya Kayserili, Stephanie L. Bielas, Lorena Travaglini, Elisa Fazzi, Enrico Bertini, Maria Amorini, Shubha R Phadke, Joseph G Gleeson, Gustavo Maegawa, Maha Zaki, Kathryn J Swoboda, Ghada M Abdel-Salam, Gian Marco Ghiggeri, Alice Abdel Aleem, Chiara Pantaleoni, Raoul Hennekam, Jennifer L Silhavy, Luciana Rigoli, Carmelo D Salpietro, Sabrina Signorini, Giuseppe Barrano, Melissa Lees, Eugen Boltshauser
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