Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients.

The article offers information on Palmoplantar keratodermas (PPK), a heterogeneous group of disorders characterized by excessive formulation of keratin on the palms and soles. It focuses on the mutation in Alpha- and Gamma-Adaptin Binding (AAGB) gene which confirms pathogenic role in PPK patients. It adds that mutation can be identified by exome sequencing.