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Article

Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.

Human pathology - 1 Dec 2018

Li Shuqiang, Zhang Yushi, Wang Zhiyong, Yang Yanfeng, Gao Wansheng, Li Dongsheng, Wei Jinxing

Abstract excerpt

TSC2 gene mutation was repeatedly reported to be associated with a more severe phenotype in patients with tuberous sclerosis complex (TSC). Our current study aims to further explore whether there is such a correlation in patients with TSC-associated renal angiomyolipoma (TSC-RAML). TSC1/TSC2 gene mutation was screened by high-throughput sequencing in 25 TSC-RAML patients from 2 medical centers. Clinical data were...

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Source

Identifiers

PMID: 30036593
DOI: 10.1016/j.humpath.2018.07.017

Genes

TSC2
TSC1

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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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