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Navarini, Alexander A; Simpson, Michael A; Borradori, Luca; Yawalkar, Nikhil; Schlapbach, Christoph (2015). Homozygous Missense Mutation in IL36RN in Generalized Pustular Dermatosis With Intraoral Involvement Compatible With Both AGEP and Generalized Pustular Psoriasis. JAMA dermatology, 151(4), pp. 452-453. American Medical Association 10.1001/jamadermatol.2014.3848
Has, Cristina; Kiritsi, Dimitra; Mellerio, Jemima E; Franzke, Claus-Werner; Wedgeworth, Emma; Tantcheva-Poor, Iliana; Kernland Lang, Kristin Helene; Itin, Peter; Simpson, Michael A; Dopping-Hepenstal, Patricia J; Fujimoto, Wataru; McGrath, John A; Bruckner-Tuderman, Leena (2014). The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. Journal of Investigative Dermatology, 134(3), pp. 845-849. Nature Publishing 10.1038/jid.2013.367