The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypes
Shruti S. Tophkhane, Gamze Akarsu, Sarah J. Gignac, Katherine Fu, Stephanie Xie, Esther M. Verheyen, Joy Marion Richman
This study shows that a truncated C-terminus in DVL1 causes Robinow Syndrome by disrupting WNT signaling and morphogenesis in animal models.
bioRxiv · Feb 17, 2026 · PreprintDevelopmental Biology