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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.

Age and sex prevalence estimate of Joubert syndrome in Italy

Ginevrino, Monia;Borgatti, Renato;Casella, Antonella;Serpieri, Valentina;Valente, Enza Maria;BOVA, STEFANIA
2020-01-01

Abstract

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.
2020
The Neurology category covers resources concerned with the central and peripheral nervous system including the brain, spinal cord, nerves, and fluids. Coverage includes general and clinical neurology including neurosurgery, neuropsychiatry, neuropsychology, neurophysiology, neuroradiology, neuropediatrics, neuropathology, and neurobiology. Resources on cerebrovascular diseases, movement and spinal disorders, pain, dementia, headache, aphasiology, brain injury, paraplegia, stroke, and acupuncture are also included.
The Pediatrics category covers resources on all aspects of clinical medicine in pediatrics. Pediatric specialties including cardiology, dermatology, gastroenterology, hematology, immunology and infectious diseases, neurology, nutrition, oncology, psychiatry, surgery, tropical medicine, urology, and nephrology are also included. Resources concerned with neonatology and adolescent medicine are also covered.
NEUROLOGY
sì
WOS:000530853800012
2-s2.0-85081110222
Esperti anonimi
Inglese
Internazionale
94
8
e797
e801
5
31969461
Joubert syndrome, epidemiology
no
14
info:eu-repo/semantics/article
262
Nuovo, Sara; Bacigalupo, Ilaria; Ginevrino, Monia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Casella, Antonella; Micalizzi, Alessia; Nardel...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
none
1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1341103
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