Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex
Katarzyna Klonowska, Krinio Giannikou, Joannes M. Grevelink, Barbara Boeszoermenyi, Aaron R. Thorner, Zachary T. Herbert, Antara Afrin, Alison Treichel, Lana Hamieh, Katarzyna Kotulska, Sergiusz Jóźwiak, Joel Moss, Thomas N. Darling, David J. Kwiatkowski
Topics & Concepts
TSC1Tuberous sclerosisTSC2GermlineBiologyPhenotypeAlleleGeneticsPathologyMedicineGenePI3K/AKT/mTOR pathwayApoptosisTuberous Sclerosis Complex ResearchTumors and Oncological CasesHistiocytic Disorders and Treatments