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Article

Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Sept 2024

Pal Dominique, Forster Nicole, Madan Monika, Whitney Robyn, Farncombe Kirsten M, Kim Raymond H

Abstract excerpt

BACKGROUND: Our study goal was to characterize the relative frequencies of molecular and phenotypic traits of tuberous sclerosis complex (TSC) in a Canadian adult population. Previous studies have sought to identify TSC-related genotypic and phenotypic trends in pediatric cohorts, but little is known about clinical manifestations and severity when it presents in adults. METHODS: We conducted a retrospective chart...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38149783
DOI: 10.1017/cjn.2023.332

Genes

TSC2
TSC1
NMI
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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