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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
by Lim, Stephen S, Dr and Vos, Theo, Prof and Flaxman, Abraham D, PhD and Danaei, Goodarz, MD and Shibuya, Kenji, Prof and Adair-Rohani, Heather, MPH and AlMazroa, Mohammad A, MD and Amann, Markus, PhD and Anderson, H Ross, Prof and Andrews, Kathryn G, MPH and Aryee, Martin, PhD and Atkinson, Charles, BS and Bacchus, Loraine J, PhD and Bahalim, Adil N, MEng and Balakrishnan, Kalpana, Prof and Balmes, John, Prof and Barker-Collo, Suzanne, PhD and Baxter, Amanda, MPH and Bell, Michelle L, Prof and Blore, Jed D, PhD and Blyth, Fiona, PhD and Bonner, Carissa, MPH and Borges, Guilherme, Prof and Bourne, Rupert, Prof and Boussinesq, Michel, MD and Brauer, Michael, Prof and Brooks, Peter, Prof and Bruce, Nigel G, Prof and Brunekreef, Bert, Prof and Bryan-Hancock, Claire, BPsych and Bucello, Chiara, BPsyc and Buchbinder, Rachelle, Prof and Bull, Fiona, Prof and Burnett, Richard T, PhD and Byers, Tim E, Prof and Calabria, Bianca, BPsyc and Carapetis, Jonathan, Prof and Carnahan, Emily, BA and Chafe, Zoe, MPH and Charlson, Fiona, MPH and Chen, Honglei, PhD and Chen, Jian Shen, PhD and Cheng, Andrew Tai-Ann, Prof and Child, Jennifer Christine, MSc and Cohen, Aaron, MPH and Colson, K Ellicott, BA and Cowie, Benjamin C, MBBS and Darby, Sarah, Prof and Darling, Susan, MPH and Davis, Adrian, Prof and Degenhardt, Louisa, Prof and Dentener, Frank, PhD and Des Jarlais, Don C, PhD and Devries, Karen, PhD and Dherani, Mukesh, PhD and Ding, Eric L, ScD and Dorsey, E Ray, MD and Driscoll, Tim, PhD and Edmond, Karen, PhD and Ali, Suad Eltahir, Mcs and Engell, Rebecca E, BA and Erwin, Patricia J, MLS and Fahimi, Saman, MD and Falder, Gail, MSc and Farzadfar, Farshad, MD and Ferrari, Alize, BPsySc and Finucane, Mariel M, PhD and Flaxman, Seth, BA and Fowkes, Francis Gerry R, Prof and Freedman, Greg, BA and Freeman, Michael K, BA and Gakidou, Emmanuela, PhD and Ghosh, Santu, MS and Giovannucci, Edward, Prof and Gmel, Gerhard, Prof and Graham, Kathryn, PhD and Grainger, Rebecca, PhD and Grant, Bridget, PhD and Gunnell, David, Prof and Gutierrez, Hialy R, BS and Hall, Wayne, Prof and Hoek, Hans W, Prof and Hogan, Anthony, PhD and Hosgood, H Dean, PhD and Hoy, Damian, PhD and Hu, Howard, Prof and Hubbell, Bryan J, PhD and Hutchings, Sally J, BSc and Ibeanusi, Sydney E, MBBS and Jacklyn, Gemma L, MPH and Jasrasaria, Rashmi, BA and Jonas, Jost B, Prof and Kan, Haidong, MD and Kanis, John A, Prof and Kassebaum, Nicholas, MD and Kawakami, Norito, Prof and Khang, Young-Ho, Prof and Khatibzadeh, Shahab, MD and Khoo, Jon-Paul, MBBS and Kok, Cindy, PhD and ...
The Lancet, ISSN 0140-6736, 2013, Volume 380, Issue 9859, pp. 2224 - 2260
Journal Article