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Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
Gruber, R; Rainer, G; Weiss, A; Udvardi, A; Thiele, H; Eckl, K M; Schupart, R; Nürnberg, P; Zschocke, J; Schmuth, M; Volc-Platzer, B; Hennies, H C.
Afiliação
  • Gruber R; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Rainer G; Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
  • Weiss A; Department of Dermatology, Donauspital Vienna, Vienna, Austria.
  • Udvardi A; Karl Landsteiner Institute for Pediatric Dermatology, Vienna, Austria.
  • Thiele H; Department of Paediatrics, Wilhelminen Hospital, Vienna, Austria.
  • Eckl KM; Department of Dermatology, Donauspital Vienna, Vienna, Austria.
  • Schupart R; Department of Paediatrics, Wilhelminen Hospital, Vienna, Austria.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Schmuth M; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Volc-Platzer B; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Hennies HC; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Br J Dermatol ; 176(4): 1068-1073, 2017 Apr.
Article em En | MEDLINE | ID: mdl-27449533

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Sistema Enzimático do Citocromo P-450 / Mutação Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Sistema Enzimático do Citocromo P-450 / Mutação Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria