| Literature DB >> 19250385 |
E A Vail1, S K Rakowski, A L Numis, E A Thiele.
Abstract
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.Entities:
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Year: 2009 PMID： 19250385 DOI： 10.1111/j.1399-0004.2008.01129.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438