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Author

Yunhao Xue

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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. · 0 citations

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