title: New mutation leading to the full variety of typical features of the Netherton syndrome.
authors.affiliation: Department of Dermatology, University of Heidelberg, Ruprecht-Karls-University Heidelberg, Germany.
authors.forename: Marta
authors.initials: M
authors.lastname: Kogut
authors.affiliation: Department of Dermatology, University of Heidelberg, Ruprecht-Karls-University Heidelberg, Germany.
authors.forename: Mareen
authors.initials: M
authors.lastname: Salz
authors.affiliation: Department of Dermatology, University of Heidelberg, Ruprecht-Karls-University Heidelberg, Germany.
authors.forename: Eva N
authors.initials: EN
authors.lastname: Hadaschik
authors.affiliation: Practice of human genetics, Heinrich von Stephan-Street-5, Freiburg, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Department of Dermatology, University of Heidelberg, Ruprecht-Karls-University Heidelberg, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Hartmann
mesh_terms: D065095:Calcineurin Inhibitors / Q000627:therapeutic use; D003879:Dermatologic Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D056770:Netherton Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D016896:Treatment Outcome; D014508:Urea / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D065095:Calcineurin Inhibitors; D003879:Dermatologic Agents; D005819:Genetic Markers; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D014508:Urea