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The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

1 Jan 2021

Abstract excerpt

OBJECTIVE: We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype. METHODS: A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype. RESULTS: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified...

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PMID: 34017900
DOI: 10.1177/2329048x211012817

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