Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
Samuel YL. Ng, Ho‐Ming Luk, Edgar W. L. Hau, Shirley S. W. Cheng, Kris PT. Yu, Stephanie Ho, Myth TS. Mok, Ivan F. M. Lo
Topics & Concepts
Tuberous sclerosisTSC1AngiomyolipomaTSC2Frameshift mutationRhabdomyomaAngiofibromaMedicinePathologyPhenotypeMissense mutationGastroenterologyBiologyGeneticsInternal medicineKidneyGenePI3K/AKT/mTOR pathwayApoptosisTuberous Sclerosis Complex ResearchHistiocytic Disorders and TreatmentsTumors and Oncological Cases