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