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Article

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report.

Medicine - 21 Jan 2022

Liu Linli, Yu Chunshui, Yan Gaowu

Abstract excerpt

RATIONALE: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by facial angiofibromas, epilepsy, intellectual disability, and the development of hamartomas in several organs, including the heart, kidneys, brain, and lungs. Mutations in either TSC1 or TSC2 result in dysregulated mTOR activation, leading to the occurrence of TSC. PATIENT CONCERNS: A 44-year-old man was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35060563
DOI: 10.1097/MD.0000000000028666
PMCID: PMC8772658

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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