Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
Kelsey R. Robinson, Sunil Kumar Singh, Rachel B Walkup…·Elizabeth J. Leslie
The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.
4 citations