SAT-012 Congenital Hypogonadotropic Hypogonadism Caused bya FrameshiftMutation inFGFR1masking as constitutional delay of puberty
SAT-012 先天性促性腺激素低下症，由FGFR1基因移码突变引起，表现为体质性青春期延迟
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doi:10.1037/ort0000806
Beatriz, Colleen D; Bertone-Johnson, Elizabeth R; Caceres, Billy A; VanKim, Nicole A; Beeken, Philipp; Ernsting, Jan; Ogoniak, Lynn; Kockwelp, Jacqueline; Hahn, Tim; Risse, Benjamin; Busch, Alexander S; Ezici, Adnan; Ramadan, Sara; Bardak, Ali Emre; He, Zhiheng; Zhang, Alice; Kapoor, Jyontika; Deveney, Christen; Cope, Adela G; Walther-Antonio, Marina M S; Chia, Nicholas; Pattanayak, Cassandra W; Tetel, Marc J; Sfeir, Joelle; Castaneda, Rosalie; Yoro, Christin; Pena, Erlinda; Bloom, Rosaleen; Brink, Heidi Vanden; Joseph, Justeena; Mulayamkuzhiyil, Jiya; De Souza, Nastassia I; Tharayil, Zubin; Lim, Michael Brian; Keys, Taylor; Jang, Subin; Jenkins, Todd; Michalsky, Marc; Inge, Thomas; Josefson, Jami; Ryder, Justin R; Jimenez, Encarnacion Torres; Lopez, Isabel; Zhuo, Jessica; Talbi, Rajae; Schrag, Michael; MacNeil, Douglas; Reddy, Laxma; Wang, Yan; Drakas, Robert; Seminara, Stephanie B; Kobayashi, Dione; Navarro, Victor Manuel; Mthethwa, Mandanda Neliswa; Angelita, Giovanny; Budi, Yovita Permata; Chang, En-Tzu; Jiang, Yi-Fan; Safar, Mohammed Adnan; Jugnarain, Vinesh; Reiter, Eric; Betz, Stephen F; Abbara, Ali; Dhillo, Waljit Singh; Hanyaloglu, Aylin Carla; Oh, Ji Eun; Park, Chan Jin; Lin, Po-Ching; Zhou, Sherry; Ko, Chemyong; Mohieldin Mohamed, Einas; Boughazi, Imane; Theodoraki, Aikaterini; Htut, Zin
