Article

Tuberous sclerosis with a novel TSC1 variant: a case report

2025-09-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas. Pathogenic variants in <italic>TSC1</italic> or <italic>TSC2</italic> are causative, and the identification of novel variants expands genotype–phenotype correlations and informs clinical management. <bold>Methods</bold> We evaluated a 10-year-old Albani...

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Literature Corpus work: 7128c0b8-4cc3-5414-86b3-b7945c25fa32
DOI: 10.21203/rs.3.rs-7451892/v1

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