ciliopathies/asthenia

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Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

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Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context

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