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    To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.

    Citation

    Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente, Nicola Vanacore. Age and sex prevalence estimate of Joubert syndrome in Italy Neurology. 2020 Feb 25;94(8):e797-e801


    PMID: 31969461

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