...诊断 结节性硬化症家系的基因诊断及产前诊断 下载全文 加入收藏夹 目的 对结节性硬化症(tuberous sclerosis complex,TSC)患者进行基因突变检测,并在基因诊断结果明确的基础上应用于产前诊断.
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这对夫妻开始为儿童疾病,对结节性硬化症,一种罕见的疾病,影响一个孩子的非盈利rothberg处理工程研究所。
The couple started the nonprofit Rothberg Institute for Childhood Diseases, which works on treatments for tuberous sclerosis, a rare disease that affects one of their children.
对16例结节性硬化症患儿的临床资料进行分析。
Methods The clinical data of 16 children with TSC were studied prospectively .
对于结节性硬化症的研究促进了人们对肿瘤、自闭症、癫痫和其它疾病的了解。
Research into cancer, autism, epilepsy and other diseases is benefiting from TSC research.
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