De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
罕见的新生 EMX2 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:10.1016/j.gim.2025.101623
Stamou Maria, Tompkins Miranda, Bow Hannah, Kearney Jessica, Akram Maleeha, Brand Harrison, Zhao Xuefang, Zaheri Shadi, Georgopoulos Neoklis A, Chorin Odelia, Khavkin Yulia, Kedar Tal, Lippincott Margaret F, Plummer Lacey, Talkowski Michael, Shen Yiping, Wu Doris K, Balasubramanian Ravikumar, Wray Susan, Seminara Stephanie B