Login / Signup

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

Dilek CicekNick WarrGozde YesilHatice Kocak EkerFirdevs BasSukran PoyrazogluFeyza DarendelilerGul DirekNihal HatipogluMehmet EltanZehra Yavas AbaliBusra Gurpinar TosunSare Betul KaygusuzTuba Seven MenevseDidem HelvaciogluSerap TuranAbdullah BereketRichard ReevesMichelle SimonMatthew MackenzieLydia TeboulAndy GreenfieldTülay Güran
Published in: European journal of endocrinology (2021)
Our data indicate the essential roles for PPP2R3C in mouse and human development. Germline homozygous variants in human PPP2R3C are associated with distinctive syndromic GD of varying severity in both 46,XY and 46,XX individuals.
Keyphrases
  • endothelial cells
  • induced pluripotent stem cells
  • electronic health record
  • copy number
  • intellectual disability
  • machine learning
  • dna methylation
  • oxidative stress
  • artificial intelligence
  • genome wide