Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex

ejd.2013.2013 Auteur(s) : Monika Oldak1 Monika.Oldak@wum.edu.pl, Dorota Przybylska1, Joanna Kosinska2, Aneta Federowicz1, Katarzyna Woźniak3, Rafal Ploski2, Cezary Kowalewski3 1 Department of Histology and Embryology, Center of Biostructure Research, 2 Department of Medical Genetics, 3 Department of Dermatology, Medical University of Warsaw, Chalubinskiego 5, 02-004 Warsaw, Poland Epidermolysis bullosa simplex (EBS) is a genetic skin disorder characterized by the formation of blisters in [...]