Publication
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D'Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C.M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stephane Romano, Carmelo D. Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil, Adnan Yuksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson
The American Journal of Human Genetics, July 2007, Elsevier
DOI: 10.1086/519026