2024-11-0920201018-4813N/Ahttps://hdl.handle.net/20.500.14288/11513N/ABiochemistryMolecular biologyGeneticsHeredityExpanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvementMeeting Abstract1476-5438598482601440Q1271