Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling
Elise Maréchal, Anne Poliard, Kilian Henry, Mathias Moreno, Mathilde Legrix, Nicolas Macagno, Grégoire Mondielli, Teddy Fauquier, Anne Barlier, Heather Etchevers
This study investigates how somatic Pik3ca mutations in neural crest and related lineages cause congenital malformations and vascular anomalies in mice, with implications for human PIK3CA-related disorders.
Frontiers in Cell and Developmental Biology · Oct 24, 2022Peer-reviewedDevelopmental Biology