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Article

Normal Cognitive Functions in Joubert Syndrome

1 Dec 2009

Abstract excerpt

Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance intelligence quotient (IQ=94). Only minor difficulties in visual-spatial...

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PMID: 20446224
DOI: 10.1055/s-0030-1249630

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