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首页> 外文期刊>Journal of dermatological science >Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome
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Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome

机译:针对鼻腔基础细胞癌综合征的分子诊断的靶向exome测序和染色体微阵列

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摘要

Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods.
机译:背景:Nevoid基础细胞癌综合征(NBCC)是主要由PTCH1的杂合突变引起的常染色体显性障碍。 除特征临床特征外,致病基因突变的检测对于NBCC的诊断是可靠的; 然而,在一些使用常规方法的一些患者中未发现突变。

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