Characterization of coordinated growth in macrodactyly caused by somatic mosaic activating mutations in PIK3CA
Catherine T. McNamara, Jennifer S. Lanni, Jake Daane, Laura C. Nuzzi, David S. Peal, Matthew P. Harris, Brian I. Labow
This study characterizes macrodactyly, a localized overgrowth disorder, by linking it to somatic mosaic PIK3CA mutations and demonstrating nerve and vascular regulation of growth through a novel animal model.
medRxiv · Jun 7, 2022 · PreprintGenetic & Genomic Medicine