...导致 神经发育障碍的产生,从而产生自闭表型,如脆性X综合征(fragile X syndrome)或结节硬化复合症(tuberous sclerosis complex ),但是这种类型的突变在自闭症病例中占少数.
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Objective To detect the mutation of TSC gene in one sporadic patient and a two-generation-family with tuberous sclerosis complex(TSC).
目的:研究两例中国汉族人结节性硬化症TSC1和TSC2基因的突变情况。
参考来源 - 2例结节性硬化症的基因突变研究·2,447,543篇论文数据,部分数据来源于NoteExpress
There is no cure for tuberous sclerosis complex (TSC).
结节性硬化症尚无法治愈。
Tuberous sclerosis complex (TSC) is the most common genetic disorder associated with epilepsy and autism.
结节性硬化症是最常见伴有癫痫和自闭症的遗传性疾病。
BACKGROUND: Neurosurgical resection is the standard treatment for subependymal giant-cell astrocytomas in patients with the tuberous sclerosis complex.
背景在有复合型结节性硬化症的病人中,神经外科切除术是室管膜下巨细胞星形细胞瘤的标准治疗。
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