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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1268 - 1276
Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein... 
Allergy and Immunology | desmoplakin | skin barrier | eosinophilic esophagitis | atopic dermatitis | desmosome | atopic sensitization | Atopy | SUBSTITUTION | HAIR | VARIANTS | FILAGGRIN | BARRIER | IMMUNOLOGY | DESMOSOMES | PALMOPLANTAR KERATODERMA | ALLERGY | SERINE-PROTEASE INHIBITOR | SKIN | DIFFERENTIATION | Dermatitis - genetics | Humans | Child, Preschool | Infant | Male | Protein Structure, Tertiary - genetics | Wasting Syndrome - genetics | Disease Progression | Mutation, Missense - genetics | Wasting Syndrome - diagnosis | Desmoglein 1 - genetics | Desmoplakins - genetics | DNA Mutational Analysis | Pedigree | Hypersensitivity - diagnosis | Hypersensitivity - genetics | Child | Infant, Newborn | Skin - pathology | Dermatitis - diagnosis | Allergy | Medical colleges | Molecular genetics | Genetic aspects | Skin | Inflammation | Dermatitis | Allergic reaction | Food allergies | Immunoglobulins | Disease | Pathogenesis | Metabolism | Patients | Proteins | Genotype & phenotype | Ostomy | Antibiotics | Biopsy | Sepsis | Mutation | Endoscopy | Age | DSG1, Desmoglein 1 gene | AD, Atopic dermatitis | PPK, Palmoplantar keratoderma | aCGH, Array comparative genome hybridization | SAM, Severe dermatitis, multiple allergies, and metabolic wasting | Atopic Dermatitis and Skin Disease | SNP, Single nucleotide polymorphism | SPINK5, Serine protease inhibitor Kazal-type 5 gene | DSP, Desmoplakin gene | WES, Whole-exome sequencing
Journal Article
The FEBS Journal, ISSN 1742-464X, 05/2006, Volume 273, Issue 9, pp. 1930 - 1947
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