Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice.
Guoqing LiXi YangLingbo WangYuncheng PanSiyuan ChenLingyue ShangYicheng ZhangYucheng WuZixue ZhouQing ChenXue ZhangLing ZhangYingchen WangJinsong LiLi JinYanhua WuXiaojin ZhangFeng ZhangPublished in: Journal of medical genetics (2021)
Our observations in both humans and mice suggest that NHEJ1 haploinsufficiency is associated with non-syndromic POI, providing novel insights into genetic counselling and clinical prevention of POI.