AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
Youssef ElhajiCherise HedlinAnu NathEmma L PriceChristopher GallantStacey NorthgravePeter R HullPublished in: Journal of cutaneous medicine and surgery (2019)
AAGAB mutations were found in 11 of 18 families with PPPK1. In some families there appears to be an association with cancer.