Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.
Yingchen WangQing ChenFeng ZhangXi YangLingyue ShangShuting RenYuncheng PanZixue ZhouGuoqing LiYunzheng FangLi JinYanhua WuXiaojin ZhangPublished in: Molecular genetics & genomic medicine (2021)
A rare heterozygous nonsense WT1 mutant is associated with non-syndromic POI and Wilms' tumor. Our finding characterized another pathogenic WT1 variant, providing insight into genetic counseling.