Gain-of-function mutation in Gli3 causes ventricular septal defects
Antonia Wiegering, Paniz Adibi, Ulrich Rüther, Christoph Gerhardt
The paper shows that a gain-of-function mutation in Gli3 causes ventricular septal defects by impairing PDGFR signaling, suggesting potential therapeutic targets.
bioRxiv · Feb 10, 2020 · PreprintDevelopmental Biology