Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
PPP2R3C基因L193S纯合变异患者出现广谱XX和XY性腺发育不全
期刊:European Journal of Endocrinology
影响因子:5.2
doi:10.1530/EJE-21-0910
Cicek, Dilek; Warr, Nick; Yesil, Gozde; Kocak Eker, Hatice; Bas, Firdevs; Poyrazoglu, Sukran; Darendeliler, Feyza; Direk, Gul; Hatipoglu, Nihal; Eltan, Mehmet; Yavas Abali, Zehra; Gurpinar Tosun, Busra; Kaygusuz, Sare Betul; Seven Menevse, Tuba; Helvacioglu, Didem; Turan, Serap; Bereket, Abdullah; Reeves, Richard; Simon, Michelle; Mackenzie, Matthew; Teboul, Lydia; Greenfield, Andy; Guran, Tulay