The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27
M Rosner, A Freilinger, M Hengstschläger - Mutation Research/Reviews in …, 2006 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor syndrome that affects∼
1 in 6000 individuals. It is characterized by the development of tumors, named hamartomas,
in the kidneys, heart, skin and brain. The latter often cause seizures, mental retardation, and
a variety of developmental disorders, including autism. This disease is caused by mutations
within the tumor suppressor gene TSC1 on chromosome 9q34 encoding hamartin or within
TSC2 on chromosome 16p13. 3 encoding tuberin. TSC patients carry a mutant TSC1 or …
1 in 6000 individuals. It is characterized by the development of tumors, named hamartomas,
in the kidneys, heart, skin and brain. The latter often cause seizures, mental retardation, and
a variety of developmental disorders, including autism. This disease is caused by mutations
within the tumor suppressor gene TSC1 on chromosome 9q34 encoding hamartin or within
TSC2 on chromosome 16p13. 3 encoding tuberin. TSC patients carry a mutant TSC1 or …