title: Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).
authors.affiliation: Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
authors.forename: S
authors.initials: S
authors.lastname: Dănescu
authors.affiliation: Department of Dermatology, Medical Center - University Freiburg, Freiburg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Leppert
authors.affiliation: Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
authors.forename: R
authors.initials: R
authors.lastname: Cosgarea
authors.affiliation: Department of Pathology, Colentina University Hospital, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
authors.forename: S
authors.initials: S
authors.lastname: Zurac
authors.affiliation: Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
authors.forename: S
authors.initials: S
authors.lastname: Pop
authors.affiliation: Department of Dermatology, University of Medicine and Pharmacy "Iuliu Hatieganu" Cluj-Napoca, Cluj-Napoca, Romania.
authors.forename: A
authors.initials: A
authors.lastname: Baican
authors.affiliation: Department of Dermatology, Medical Center - University Freiburg, Freiburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Has
mesh_terms: D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003872:Dermatitis / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D051183:Desmoglein 1 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D006967:Hypersensitivity / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012720:Severity of Illness Index; D019282:Wasting Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism
chemical_list: C495297:DSG1 protein, human; D051183:Desmoglein 1; D004247:DNA