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Article

Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.

Science China. Life sciences - 1 Jul 2017

Bai Dayong, Zhao Junyang, Li Li, Gao Jun, Wang Xu

Abstract excerpt

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20...

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Adolescent
Child
Child, Preschool
Infant
Tuberous Sclerosis
Tuberous Sclerosis Complex 1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tuberous Sclerosis Complex 2 Protein

Tumor Suppressor Proteins

Source

Identifiers

PMID: 28623545
DOI: 10.1007/s11427-017-9091-x

Genes

TSC1
TSC2

Provenance

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

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