摘要 ：蓝色橡皮疱痣综合征合并室间隔缺损在临床上非常罕见。
Abstract : The co-occurrence of blue rubber bleb nevus syndrome (BRBNS) and ventricular septal defects is rare.
方法采用PCR - SSCP筛查与DNA直接测序的方法对12例okc进行PTCH基因突变的检测，其中2例为痣样基底细胞癌综合征(NBCCS)相关okc,10例为散发okc。
Methods PCRSSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC.
方法采用PCR - SSCP筛查与DNA直接测序的方法对12例okc进行PTCH基因突变的检测，其中2例为痣样基底细胞癌综合征(NBCCS)相关okc,10例为散发okc。
Methods PCRSSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC.
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