Molecular BiologyNature CommunicationsPeer-reviewed
CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment
Jie Zhang, Gongcheng Hu, Yuli Lu…·Hongjie Yao
This study shows that a CTCF R567W mutation causes developmental disorders by altering 3D genome structure and neurodevelopmental pathways in mouse and human models.