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Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).
Danescu, S; Leppert, J; Cosgarea, R; Zurac, S; Pop, S; Baican, A; Has, C.
Affiliation
  • Danescu S; Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
  • Leppert J; Department of Dermatology, Medical Center - University Freiburg, Freiburg, Germany.
  • Cosgarea R; Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
  • Zurac S; Department of Pathology, Colentina University Hospital, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
  • Pop S; Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
  • Baican A; Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
  • Has C; Department of Dermatology, Medical Center - University Freiburg, Freiburg, Germany.
J Eur Acad Dermatol Venereol ; 31(3): e144-e146, 2017 Mar.
Article in En | MEDLINE | ID: mdl-27632246

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA / Wasting Syndrome / Dermatitis / Desmoglein 1 / Hypersensitivity / Mutation Limits: Child, preschool / Female / Humans Language: En Journal: J Eur Acad Dermatol Venereol Journal subject: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Year: 2017 Document type: Article Affiliation country: Romania

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA / Wasting Syndrome / Dermatitis / Desmoglein 1 / Hypersensitivity / Mutation Limits: Child, preschool / Female / Humans Language: En Journal: J Eur Acad Dermatol Venereol Journal subject: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Year: 2017 Document type: Article Affiliation country: Romania