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The Journal of Dermatology, ISSN 0385-2407, 12/2017, Volume 44, Issue 12, pp. e312 - e312
Journal Article
Journal of the American Podiatric Medical Association, ISSN 8750-7315, 09/2017, Volume 107, Issue 5, pp. 428 - 435
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 01/2017, Volume 83, Issue 1, pp. 95 - 98
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2006, Volume 38, Issue 4, pp. 441 - 446
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 | 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
Journal Article
The Journal of investigative dermatology, ISSN 0022-202X, 3/2014, Volume 134, Issue 3, pp. 588 - 591
The International Pachyonychia Congenita Consortium (IPCC) was founded in 2004 in Park City, Utah, USA. Its goal is to find a cure for pachyonychia congenita,... 
keratin | pain | Pachyonychia congenita | nail | palmoplantar keratoderma
Journal Article
Journal of Cutaneous Medicine and Surgery, ISSN 1203-4754, 1/2015, Volume 19, Issue 1, pp. 57 - 65
Background: Pachyonychia congenita (PC) is a rare but often debilitating, dominantly inherited disorder. New treatments require more accurate instruments for... 
VALIDATION | ATOPIC-DERMATITIS | INDEX | DERMATOLOGY | Young Adult | Reproducibility of Results | Psychometrics - standards | Humans | Psychometrics - methods | Quality of Life | Adult | Surveys and Questionnaires | Models, Statistical | Pachyonychia Congenita - psychology
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 05/2011, Volume 131, Issue 5, pp. 1015 - 1017
Journal Article