Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Saved in:
| Main Authors: | Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
|
| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/ijog/6963280 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)
by: Beatriz Azevedo Nunes, et al.
Published: (2024-09-01) -
Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant
by: Zhiqin Du, et al.
Published: (2025-01-01) -
Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes
by: Xiu-juan Yao, et al.
Published: (2025-07-01) -
Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis
by: Anil Apak, et al.
Published: (2003-01-01) -
Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report
by: Aya Kawasaki, MD, et al.
Published: (2025-03-01)