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Clinical and Imaging Profile of Patients with Joubert Syndrome

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS. Methods This was a retrospective chart review of patients with JS evaluated...

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Principais autores: Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Format: Artigo
Sprog:Inglês
Udgivet: Korean Movement Disorder Society 2021-09-01
Serier:Journal of Movement Disorders
Fag:
joubert syndrome
molar tooth sign
vermis hypoplasia
facial dysmorphism
ataxia
movement disorders
Online adgang:http://www.e-jmd.org/upload/jmd-21066.pdf
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