Age and sex prevalence estimate of Joubert syndrome in Italy

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 It...

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Bibliografiske detaljer
Udgivet i:Neurology
Main Authors: Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7136056/
https://ncbi.nlm.nih.gov/pubmed/31969461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000008996
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