Aug 2026
PIK3CA in-frame deletion-activated PI3K/AKT signaling pathway drives macrodactyly.
The role of the PI3K/AKT pathway in the PIK3CA-related overgrowth is clarified, with one pediatric patient carrying a novel mosaic de novo in-frame deletion mutation in the PIK3CA gene identified.
Jing-Heng Wu, Shan-Lin Chen, Yunhao Xue et al.
· Yi chuan = Hereditas · 0 citations