Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.
Qian JiangYang WangQi LiZhen ZhangPing XiaoHui WangNa LiuJian WuFeng ZhangAravinda ChakravartiWei CaiLong LiPublished in: Orphanet journal of rare diseases (2019)
Our findings expand the clinical and molecular spectrum of RET variants in HSCR and reveal a high frequency of RET DNVs in the Chinese population.