【摘 要】
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Tuberous sclerosis complex (TSC) is a neural skin syndrome caused by autosomal dominant disorder.TSC is characterized by hamartomas in the affected organs.F
【机 构】
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首都医科大学宣武医院,北京,100053
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Tuberous sclerosis complex (TSC) is a neural skin syndrome caused by autosomal dominant disorder.TSC is characterized by hamartomas in the affected organs.Facial angiofibromas, seizures, and mental retardation are the three common clinical characteristics of TSC.TSC is caused by the mutation of TSC1 or TSC2 gene, which respectively encode hamartin and tuberin,.In this study, we tested the TSC1 and TSC2 gene in a 17-year-old boy with TSC and analyzed the change of tuberin.
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