Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

Jian Chen; Hairui Sun; Ling Han; Xiaoyan Gu; Xiaoyan Hao; Yuwei Fu; Zongjie Weng; Yi Xiong; Baomin Liu; Hongjia Zhang; Yihua He; Hong Li

doi:10.1155/ijog/6963280

International Journal of Genomics (Jan 2025)

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

Jian Chen,
Hairui Sun,
Ling Han,
Xiaoyan Gu,
Xiaoyan Hao,
Yuwei Fu,
Zongjie Weng,
Yi Xiong,
Baomin Liu,
Hongjia Zhang,
Yihua He,
Hong Li

Affiliations

Jian Chen: Department of Echocardiography
Hairui Sun: Maternal-Fetal Consultation Center of Congenital Heart Disease
Ling Han: Maternal-Fetal Consultation Center of Congenital Heart Disease
Xiaoyan Gu: Maternal-Fetal Consultation Center of Congenital Heart Disease
Xiaoyan Hao: Maternal-Fetal Consultation Center of Congenital Heart Disease
Yuwei Fu: Maternal-Fetal Consultation Center of Congenital Heart Disease
Zongjie Weng: Department of Ultrasonography
Yi Xiong: Department of Ultrasonography
Baomin Liu: Department of Ultrasonography
Hongjia Zhang: Department of Cardiac Surgery
Yihua He: Maternal-Fetal Consultation Center of Congenital Heart Disease
Hong Li: Department of Ultrasound

DOI: https://doi.org/10.1155/ijog/6963280
Journal volume & issue: Vol. 2025

Abstract

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Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.

Published in International Journal of Genomics

ISSN: 2314-436X (Print); 2314-4378 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics
Website: https://onlinelibrary.wiley.com/journal/4140

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