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Article

Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.

Clinical neurology and neurosurgery - 1 Mar 2017

Yu Tingting, He Yingzhong, Li Niu, Zhou Yunqing, Wang Zhiping, Fu Qihua, Wang Jiwen, Wang Jian

Abstract excerpt

OBJECTIVE: The study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC). METHODS: 11 unrelated Chinese patients with TSC were investigated in the present study. Characteristic skin lesions such as hypomelanotic macules and the central nervous system features such as the epilepsy, cortical tubers and subependymal nodules...

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Source

Identifiers

PMID: 28178598
DOI: 10.1016/j.clineuro.2017.01.015

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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