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Clinical and Experimental Dermatology, ISSN 0307-6938, 06/2018, Volume 43, Issue 4, pp. 430 - 436
Journal Article
Biological Chemistry, ISSN 1431-6730, 12/2016, Volume 397, Issue 12, pp. 1287 - 1292
Journal Article
Environmental Health and Preventive Medicine, ISSN 1342-078X, 7/2014, Volume 19, Issue 4, pp. 307 - 313
Journal Article
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 | HAIR | EPIDERMAL DIFFERENTIATION | FILAGGRIN | BARRIER | IMMUNOLOGY | ATOPIC-DERMATITIS | DESMOSOMES | PALMOPLANTAR KERATODERMA | ALLERGY | DISEASE | SERINE-PROTEASE INHIBITOR | SKIN | 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 | Index Medicus | Abridged Index Medicus | 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
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, pp. e0178096 - e0178096
Journal Article
Indian Journal of Dermatology, ISSN 0019-5154, 10/2012, Volume 57, Issue 4, pp. 265 - 268
Netherton syndrome (NS) is a severe autosomal recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata,... 
Netherton syndrome | SPINK5 gene | Mutation | Polymerase chain reaction | Usage | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Ichthyosis | Skin diseases | Skin | Dermatology | Genes | Basic Research
Journal Article