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Article

Development of a Nomogram for Predicting Tuberous Sclerosis Complex Genotypes in Children Using Advanced Diffusion MRI and Clinical Data.

Academic radiology - 1 Jun 2025

Sun Hui, Yan Zhiping, Gao Junhang, Zheng Yingzhi, Zheng Yueyu, Song Yang, Liu Yongji, Lin Zhixian, Shen Wencai, Fang Jin, Qu Hong, Diao Yanzhao, Liu Hongmei, Su Sulian, Jiang Guihua

Abstract excerpt

RATIONALE AND OBJECTIVES: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder. Focusing on central nervous system manifestations, this study developed an imaging-clinical model combining advanced diffusion MRI parameters with neurological clinical features to distinguish TSC1 vs. TSC2 genotypes. MATERIALS AND METHODS: Eighty-eight patients newly diagnosed with TSC were enrolled. All underwent a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40180846
DOI: 10.1016/j.acra.2025.03.022

Genes

TSC2
TSC1

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