Ontology highlight
ABSTRACT:
SUBMITTER: Caban C
PROVIDER: S-EPMC5189696 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
The application of clinical genetics 20161221
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either <i>TSC1</i> or <i>TSC2</i>. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for <i>TSC1</i> and <i>TSC2</i>, including deletion, nonsense, and missense mutation ...[more]