Associated Papers
Tuberous sclerosis complex with multisystem involvement: A case report.
Chen H et al.
The Journal of International Medical Research, 2026
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.
Shin HJ et al.
Neurogenetics, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.2.
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.
Tessarech M et al.
American Journal of Medical Genetics. Part A, 2020
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME et al.
Scientific Reports, 2020
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