Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
PRKCI 的罕见变异导致 Van der Woude 综合征和皮周病的其他特征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.08.008
Robinson, Kelsey; Singh, Sunil K; Walkup, Rachel B; Fawwal, Dorelle V; Vilfort, Kendra M; Koloskee, Amanda; Fashina, Azeez; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Chung, Wendy K; Cutler, David J; Epstein, Michael P; Gasser, Brooklynn; Gowans, Lord J J; Hecht, Jacqueline T; Mankad, Anuj; Moreno Uribe, Lina; Scott, Daryl A; Shaw, Gary M; Thomas, Mary Ann; Weinberg, Seth M; Liao, Eric C; Brand, Harrison; Marazita, Mary L; Lipinski, Robert J; Murray, Jeffrey C; Cornell, Robert A; Leslie-Clarkson, Elizabeth J