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
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doi:10.1101/2025.01.17.25320742
Kelsey Robinson, Sunil K Singh, Rachel B Walkup, Dorelle V Fawwal, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, Wendy K Chung, David J Cutler, Michael P Epstein, Azeez Fashina, Brooklynn Gasser, Lord Jj Gowans, Jacqueline T Hecht, Lina Moreno Uribe, Daryl A Scott, Gary M Shaw, Ma