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An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?

30 Mar 2011

Abstract excerpt

AIM: This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations. METHODS: Phenotypic features were recorded in 45 patients who fulfilled established criteria for a diagnosis of...

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PMID: 21449900
DOI: 10.1111/j.1440-1754.2011.02038.x

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