Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.

Jing LinHua XuBiaobang ChenWenjing WangLei WangXiaoxi SunQing Sang

Published in: Journal of assisted reproduction and genetics (2020)

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.

Keyphrases

genome wide
copy number
polycystic ovary syndrome
type diabetes
gene expression
adipose tissue
pregnant women
metabolic syndrome