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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 Zhang
Published 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.
Keyphrases
  • intellectual disability
  • early onset
  • case report
  • genome wide
  • smoking cessation
  • copy number
  • autism spectrum disorder
  • gene expression
  • dna methylation
  • human immunodeficiency virus