Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency
RNPC3基因的致病性变异与垂体功能减退和原发性卵巢功能不全有关。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2021.09.019
Akin, Leyla; Rizzoti, Karine; Gregory, Louise C; Corredor, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M; Martos-Moreno, Gabriel Á; Azmanov, Dimitar N; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Pérez-Jurado, Luis A; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul T
