De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
CSNK2B 的新生变异通过破坏经典 Wnt 信号通路导致新的智力障碍——颅指综合征
期刊:HGG Advances
影响因子:3.3
doi:10.1016/j.xhgg.2022.100111
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, L
信号转导
FCM
IF
IHC-P
WB
Wnt/β-Catenin
