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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Role of mutational analysis in diagnosis of tuberous sclerosis complex
E A Vail1, S K Rakowski, A L Numis
1Department of Neurology, Massachusetts General Hospital, Boston, USA.
Clinical Genetics
|March 3, 2009
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.
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