CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
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| Description | scientific article |
| Author/s |
author: Giuseppe Barrano Ghada M Abdel-Salam Stephanie L. Bielas Bruno Dallapiccola Gustavo Maegawa Eugen Boltshauser Elisa Fazzi Maria Amorini Joseph G Gleeson Lorena Travaglini Alice Abdel Aleem Luciana Rigoli Shubha R Phadke Carmelo D Salpietro Kathryn J Swoboda Chiara Pantaleoni Melissa Lees Lihadh Al-Gazali Enza Maria Valente Francesco Brancati Gian Marco Ghiggeri Jennifer L Silhavy Sabrina Signorini Raoul Hennekam Maha Zaki Enrico Bertini Hulya Kayserili |
| Publication date | July 2007 |
| Language | English |
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