Genetic & Genomic MedicinemedRxivPreprint
Characterization of coordinated growth in macrodactyly caused by somatic mosaic activating mutations in PIK3CA
Catherine T. McNamara, Jennifer S. Lanni, Jake Daane…·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.
DOI 10.1101/2022.06.07.22275709