GeneticsbioRxivPreprint
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics
Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun…·Claudia M.B. Carvalho
The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.
DOI 10.1101/2025.08.02.668297