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Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.

Neurogenetics - 1 Oct 2024

Shin Hui Jin, Lee Sangbo, Kim Se Hee, Lee Joon Soo, Oh Ji Young, Ko Ara, Kang Hoon-Chul

Abstract excerpt

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The aim of this study was to analyze the genotypes and phenotypes of Korean patients diagnosed with TSC and expand our understanding of this disorder. This retrospective observational study included 331 patients clinically diagnosed with TSC between November 1990 and April 2023 at Severance...

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Child, Preschool
Genetic Association Studies
Infant
Republic of Korea
Tuberous Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tuberous Sclerosis Complex 1 Protein

Tuberous Sclerosis Complex 2 Protein

Tumor Suppressor Proteins

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PMID: 39110368
DOI: 10.1007/s10048-024-00777-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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