PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
PHIP相关Chung-Jansen综合征:23例新病例报告
期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2022.1020609
Kampmeier, Antje; Leitão, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Wödl, Stefanie; Grasshoff, Ute; Haack, Tobias B; Bijlsma, Emilia K; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpää, Maria K; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; López-González, Vanesa; Sanchez-Soler, María José; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian P; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank J; Kuechler, Alma