Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
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T. Mazza | H. Van Esch | H. Kayserili | E. Valente | J. Gleeson | A. Poretti | E. Boltshauser | P. Moerman | L. Al-Gazali | S. Roosing | R. Rosti | D. Musaev | B. De Keersmaecker | S. D'Arrigo | P. Mark | A. Micalizzi | U. Altunoğlu | R. Puri | I. Kraoua | M. Romani | M. Isrie | J. Van Keirsbilck | S. Brandenberger | Trudy McKanna