Article
Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.
Developmental medicine and child neurology - 1 Jun 2006
Devlin Lisa A, Shepherd C H, Crawford H, Morrison P J
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. Diagnosis is based on clinical features but can be difficult as a result of variable phenotypic expression. With the advantage of mutation analysis in making a diagnosis of TSC, and improved identification of the associated clinical features, there have been few...
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