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Article

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Orphanet journal of rare diseases - 23 Jul 2022

Luo Cong, Zhang Ye, Zhang Yu-Shi, Zhang Ming-Xin, Ning Jun, Chen Min-Feng, Li Yuan, Qi Lin, Zu Xiong-Bing, Li Yang-Le, Cai Yi

Abstract excerpt

PURPOSE: To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC). MATERIALS AND METHODS: We reviewed 173 patients with definite TSC at three centers in China from September 2014 to September 2020. All the patients underwent TSC1 and TSC2 genetic testing as well as renal phenotypic evaluation. All...

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Identifiers

PMID: 35870981
DOI: 10.1186/s13023-022-02443-1
PMCID: PMC9308181

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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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