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Tuberous sclerosis—what’s new?
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- Published on: 22 March 2016
- Published on: 22 March 2016Tuberous sclerosis: what's new...the role of gene testingShow More
Dear Editor,
In regard to “Tuberous sclerosis: what’s new?” 1, we agree with the authors’ assertion that gene testing has limited diagnostic value (sensitivity of 75%2). Diagnosis of tuberous sclerosis (TSC) is based on established clinical and radiological criteria3. In our experience, TSC gene testing has an important adjunct role.
Currently, parents of an index case are assessed for signs of TSC, i...
Conflict of Interest:
None declared.