Giehl, K.A. et al. 2016. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. Acta Dermato-Venereologica. 96, 4 (Jan. 2016), 468–472. DOI:https://doi.org/10.2340/00015555-2304.