Age and sex prevalence estimate of Joubert syndrome in Italy.

Sara NuovoIlaria BacigalupoMonia GinevrinoRoberta BattiniEnrico BertiniRenato BorgattiAntonella CasellaAlessia MicalizziMarta NardellaRomina RomanielloValentina SerpieriGinevra ZanniEnza Maria ValenteNicola Vanacorenull null

Published in: Neurology (2020)

We estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.

Keyphrases

risk factors
end stage renal disease
ejection fraction
newly diagnosed
systematic review
chronic kidney disease
genome wide
peritoneal dialysis
gene expression
case report
copy number
atomic force microscopy
high speed
patient reported