Article
Tuberous sclerosis complex: Recent advances in manifestations and therapy.
International journal of urology : official journal of the Japanese Urological Association - 1 Sept 2017
Wataya-Kaneda Mari, Uemura Motohide, Fujita Kazutoshi, Hirata Haruhiko, Osuga Keigo, Kagitani-Shimono Kuriko, Nonomura Norio
Abstract excerpt
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were...
Topics
- Animals
- Humans
- Intersectoral Collaboration
- Mutation
- Patient Care Team
- Signal Transduction
- Tuberous Sclerosis
- Tuberous Sclerosis Complex 1 Protein
- Tuberous Sclerosis Complex 2 Protein