Article
The molecular genetics of tuberous sclerosis.
Human molecular genetics - 1 Jan 1994
Sampson J R, Harris P C
Abstract excerpt
Tuberous sclerosis (TSC) is an autosomal dominant trait characterized by the widespread development of benign tumours classified as hamartoma, and is often associated with seizures and mental retardation. The patchy distribution and focal nature of the growths suggests that they might result from...
Topics
- Chromosome Deletion
- Chromosome Mapping
- Humans
- Phenotype
- Repressor Proteins
- Tuberous Sclerosis
- Tuberous Sclerosis Complex 2 Protein
- Tumor Suppressor Proteins