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Article

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.

The Journal of dermatology - 1 Jul 2018

Zheng Li-Yun, Lee Yu-Wei, Han Yang, Tang Li-Li, Cheng Yu-Yan, Dou Jin-Fa, Zhou Fu-Sheng, Zheng Xiao-Dong, Wang Hong-Yan, Wang Pei-Guang, Gao Min

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29740858
DOI: 10.1111/1346-8138.14349

Genes

TSC1
TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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