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Article

Age and sex prevalence estimate of Joubert syndrome in Italy

23 Jan 2020

Abstract excerpt

Objective 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. Methods We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the...

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PMID: 31969461
DOI: 10.1212/wnl.0000000000008996

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