Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
TBC1D32 功能缺失变异是综合征性垂体功能减退症的病因
期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgaa078
Hietamäki, Johanna; Gregory, Louise C; Ayoub, Sandy; Iivonen, Anna-Pauliina; Vaaralahti, Kirsi; Liu, Xiaonan; Brandstack, Nina; Buckton, Andrew J; Laine, Tiina; Känsäkoski, Johanna; Hero, Matti; Miettinen, Päivi J; Varjosalo, Markku; Wakeling, Emma; Dattani, Mehul T; Raivio, Taneli