Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism
编码信号素-3F及其受体plexin-A3的SEMA3F和PLXNA3基因的功能缺失变异会导致特发性低促性腺激素性性腺功能减退症。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-01087-5
Kotan, Leman Damla; Ternier, Gaetan; Cakir, Aydilek Dagdeviren; Emeksiz, Hamdi Cihan; Turan, Ihsan; Delpouve, Gaspard; Kardelen, Asli Derya; Ozcabi, Bahar; Isik, Emregul; Mengen, Eda; Cakir, Esra Deniz P; Yuksel, Aysegul; Agladioglu, Sebahat Yilmaz; Dilek, Semine Ozdemir; Evliyaoglu, Olcay; Darendeliler, Feyza; Gurbuz, Fatih; Akkus, Gamze; Yuksel, Bilgin; Giacobini, Paolo; Topaloglu, A Kemal
