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Article

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

12 May 2017

Abstract excerpt

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 of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental...

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PMID: 28497568
DOI: 10.1002/ajmg.a.38272

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