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通过报道1例结节性硬化症患者及其子女的临床表现和基因突变分析,为此类患病人群进行孕前遗传优生指导提供临床依据。
By reporting a case of tuberous sclerosis patients and their children’s clinical manifestations and gene mutation analysis for these patients to provide prenatal guidance of genetic eugenics provide a clinical basis.