» Articles » PMID: 15121792

Characterisation of a Novel TSC2 Missense Mutation in the GAP Related Domain Associated with Minimal Clinical Manifestations of Tuberous Sclerosis

Overview
Journal J Med Genet
Specialty Genetics
Date 2004 May 4
PMID 15121792
Citations 17
Authors
Affiliations
Soon will be listed here.
Citing Articles

Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in gene: A case report.

Kawasaki A, Tonoki H, Sasaki O, Matsushita Y, Watari M, Takahashi N Radiol Case Rep. 2025; 20(3):1526-1531.

PMID: 39811056 PMC: 11731587. DOI: 10.1016/j.radcr.2024.11.062.


Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.

Schultz K, MacFarland S, Perrino M, Mitchell S, Kamihara J, Nelson A Clin Cancer Res. 2024; 31(2):234-244.

PMID: 39540884 PMC: 11747828. DOI: 10.1158/1078-0432.CCR-24-1947.


Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.

Farach L, Richard M, Lupo P, Sahin M, Krueger D, Wu J Pediatr Neurol. 2020; 113:46-50.

PMID: 33011641 PMC: 10461434. DOI: 10.1016/j.pediatrneurol.2020.07.015.


Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Ye Y, Zeng Y Sci Rep. 2019; 9(1):4456.

PMID: 30872599 PMC: 6418313. DOI: 10.1038/s41598-019-38898-9.


Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.

Gao S, Wang Z, Xie Y Medicine (Baltimore). 2018; 97(29):e11533.

PMID: 30024541 PMC: 6086505. DOI: 10.1097/MD.0000000000011533.