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Article

Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.

Medicine - 1 Jul 2018

Gao Shan, Wang Zhiling, Xie Yongmei

Abstract excerpt

RATIONALE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. The TSC1 and TSC2 genes have been identified as pathogenic genes. PATIENT CONCERNS: In this report, we are discussing a novel frameshift mutation and a novel missense mutation in the TSC2 gene. DIAGNOSES: The two cases discussed in this study met the latest diagnostic criteria for TSC published by the International Tuberculosis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30024541
DOI: 10.1097/MD.0000000000011533
PMCID: PMC6086505

Genes

TSC2
TSC1

Variants

Provenance

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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