Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea PorettiRatna Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente

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Biochemistry, Genetics and Molecular Biology