A novel <i>TLE6</i> mutation, c.541+1G&gt;A, identified using whole‐exome sequencing in a Chinese family with female infertility

Abstract

Our study expands the mutational and phenotypic spectrum of TLE6 and suggests the important role of TLE6 during embryonic development. Our findings have implications for the genetic diagnosis of female infertility with recurrent IVF/ICSI failure.