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Clin Genet. 2009 Mar;75(3):282-5. doi: 10.1111/j.1399-0004.2008.01129.x.

Role of mutational analysis in diagnosis of tuberous sclerosis complex.

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Department of Neurology, Massachusetts General Hospital, Boston, USA.


We describe three cases in whom identification of a disease-causing mutation in the TSC1 or TSC2 gene preceded the appearance or detection of symptoms sufficient for a clinical diagnosis of tuberous sclerosis complex (TSC). We suggest that genetic testing be given a more prominent role in the evaluation of individuals with a family history of TSC or symptoms suggestive of TSC and propose that diagnostic criteria be revised to include genetic testing.

[Indexed for MEDLINE]

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