科研之友
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摘要
Clinical signs and symptoms have been used to diagnose and define tuberous sclerosis complex (TSC), with the first description being that of the Vogt triad (epilepsy, intellectual disability, and facial angiofibromas).(1) The clinical criteria to diagnose TSC no longer include epilepsy and intellectual disability, and have been further expanded. Presence of a disease-causing mutation in TSC1 or TSC2 (the genes involved in TSC) is now included as an independent diagnostic criterion.(2</SUP)
- 出版日期2016-9-6
