结节性硬化是一种常染色体显性遗传性疾病。过去临床上主要靠病人有癫痫、智力低下和皮脂腺瘤三大体征来诊断。
Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.
结论:EBS - WC主要是常染色体显性遗传性疾病,目前尚无有效的治疗方法,确诊需依靠电镜检查。
Conclusions: EBS-WC is an autosomal dominant genetic disorder with no special treatment. The diagnosis of this condition can be confirmed by the electron microscopy.
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