whole-exome sequencing (WES) of patients with non-syndromic oligodontia

To investigate pathogenic mutations of the paired box 9 (PAX9) gene in patients with non-syndromic oligodontia, and the functional impact of these mutations. WES was utilised to detect gene mutations in a cohort of patients diagnosed with non-syndromic oligodontia

为探究非综合征性少牙症患者体内配对盒9（paired box 9, PAX9）基因的致病突变及其功能影响，本研究采用全外显子测序（Whole Exome Sequencing, WES）技术，对一组确诊为非综合征性少牙症的患者队列开展基因突变检测。