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Article

The Tuberous Sclerosis Complex and its Highly Variable Manifestations

1 May 2003

Abstract excerpt

PURPOSE: Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome affecting multiple organ systems and demonstrating highly variable clinical manifestations. Mutations in 2 tumor suppressor genes, TSC1 and TSC2, are linked to the evolution of the hamartomatous lesions. We describe the incidence and epidemiology, variable clinical manifestations and their relationships to renal pathology, and the...

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PMID: 12686801
DOI: 10.1097/01.ju.0000058253.40352.60

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