Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

Specialty Areas:
Date: November 11, 2025
Authors:
Kelsey Robinson, Sunil K. Singh, Rachel B Walkup, Dorelle V. Fawwal, Kendra M Vilfort, Amanda Koloskee, Azeez Fashina, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, Wendy K. Chung, David J. Cutler, Michael P. Epstein, Brooklynn Gasser, Lord J J Gowans, Jacqueline T. Hecht, Anuj Mankad, Lina Moreno Uribe, Daryl A Scott, Gary M. Shaw, Mary Ann Thomas, Seth M. Weinberg, Eric C Liao, Harrison Brand, Mary L. Marazita, Robert J Lipinski, Jeffrey C. Murray, Robert A. Cornell, Elizabeth J Leslie-Clarkson
Journal: American Journal of Human Genetics