Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente(Istituti di Ricovero e Cura a Carattere Scientifico), Joseph G. Gleeson(Howard Hughes Medical Institute), Lihadh Al‐Gazali(United Arab Emirates University), Francesco Brancati(Casa Sollievo della Sofferenza), Marco Castori(Casa Sollievo della Sofferenza), Sabrina Signorini(University of Pavia), Suguna Rani Krishnaswami(University of California San Diego), Enrico Bertini(Bambino Gesù Children's Hospital), Emanuele Bellacchio(Istituti di Ricovero e Cura a Carattere Scientifico), Giuseppe Barrano(Casa Sollievo della Sofferenza), Elisa Fazzi(Urology Foundation), Madeline A. Lancaster(MRC Laboratory of Molecular Biology), Loredana Boccone(Ospedale Microcitemico), Carrie M Louie(University of California San Diego), Jennifer L. Silhavy(Howard Hughes Medical Institute), Eugen Boltshauser(University of Zurich), Bruno Dallapiccola(Bambino Gesù Children's Hospital)
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