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A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.

Orphanet J Rare Dis · 2023 · PMC10637019 · PMID 37946245

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The present data suggest that patients with TSC1 variants have a less severe phenotype than patients with TSC2 variants; however, due to the small cohort size, this difference did not reach statistical significance, except for SEN and renal cysts, which were significantly more often associated with TSC2 than TSC1 variants.

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