Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
RRAS2 激活突变是努南综合征的罕见病因
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.04.013
Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H F; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei Adariani, Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Cuturilo, Goran; Kazemein Jasemi, Neda S; Dvorsky, Radovan; Monaghan, Kristin G; Vincent, Lisa M; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin