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Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.
Moosbrugger-Martinz, V; Jalili, A; Schossig, A S; Jahn-Bassler, K; Zschocke, J; Schmuth, M; Stingl, G; Eckl, K M; Hennies, H C; Gruber, R.
Afiliación
  • Moosbrugger-Martinz V; Department of Dermatology and Venereology, Medical University Innsbruck, Innsbruck, Austria.
  • Jalili A; Division of Immunology, Allergy and Infectious Diseases, Department of Dermatology, Medical University of Vienna, Vienna, Austria.
  • Schossig AS; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Jahn-Bassler K; Division of Immunology, Allergy and Infectious Diseases, Department of Dermatology, Medical University of Vienna, Vienna, Austria.
  • Zschocke J; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Schmuth M; Department of Dermatology and Venereology, Medical University Innsbruck, Innsbruck, Austria.
  • Stingl G; Division of Immunology, Allergy and Infectious Diseases, Department of Dermatology, Medical University of Vienna, Vienna, Austria.
  • Eckl KM; Center for Dermatogenetics, Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Hennies HC; Center for Dermatogenetics, Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Gruber R; Department of Dermatology and Venereology, Medical University Innsbruck, Innsbruck, Austria.
Br J Dermatol ; 172(6): 1628-1632, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25400170
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Cistatina A / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2015 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Cistatina A / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2015 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido