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Article

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

13 Jan 2017

Abstract excerpt

BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for...

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PMID: 28087721
DOI: 10.1136/jmedgenet-2016-104425

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