CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
Titel:
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
Auteur:
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. Rigoli, Luciana Romano, Stephane Salpietro, Carmelo D. Sherr, Elliott H. Signorini, Sabrina Stromme, Petter Stuart, Bernard Sztriha, Laszlo Viskochil, David H. Yuksel, Adnan Dallapiccola, Bruno Valente, Enza Maria Gleeson, Joseph G.