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Genetics and Molecular Biology of Tuberous Sclerosis Complex

30 Oct 2008

Abstract excerpt

Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is genetically determined with an autosomal dominant inheritance and is caused by inactivating mutations in either the TSC1 or TSC2 genes. TSC1/2 genes play a fundamental role in the...

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PMID: 19506736
DOI: 10.2174/138920208786241243

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