Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.
Lu HanZhen ZhangHui WangHui SongQing GaoYuchun YanRan TaoPing XiaoLong LiQian JiangQi LiPublished in: Orphanet journal of rare diseases (2020)
Our study expanded the mutation spectrum of MNX1 and provided clinical and genetic analyses of seventeen CS patients from mainland China.