Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.
J MohamadLiat SamuelovL MalkiA PeledM PavlovskyK MalovitskiS TaiberN AdirT RabinowitzN ShomronJ D MilnerG LestringantOfer SarigEli SprecherPublished in: Clinical and experimental dermatology (2020)
In summary, we report the identification of the first gain-of-function missense mutation in CTSB, which was found to be associated in one individual with a dominant form of diffuse PPK.