tuberous sclerosis

Definition & EpidemiologyTuberous sclerosis complex (TSC; OMIM #191100, #613254) is a rare autosomal dominant neurocutaneous phakomatosis characterized by the development of benign hamartomas in multiple organ systems. It affects ~1 in 6,000–10,000 live births, with equal gender and racial distribution. Approximately two-thirds of cases result from de novo mutations; the remainder are inherited. Penetrance is…