Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

BACKGROUND: Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To date, only 3 families have been reported. OBJECTIVE: We studied a new case of SAM syndrome known to have no mutations in D...

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Detalles Bibliográficos
Autores principales: McAleer, Maeve A., Pohler, Elizabeth, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, MacGowan, Stuart, Koetsier, Jennifer L., Godsel, Lisa M., Harmon, Robert M., Gruber, Robert, Crumrine, Debra, Elias, Peter M., McDermott, Michael, Butler, Karina, Broderick, Annemarie, Sarig, Ofer, Sprecher, Eli, Green, Kathleen J., McLean, W.H. Irwin, Irvine, Alan D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2015
Materias:
Atopic Dermatitis and Skin Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4649901/
https://www.ncbi.nlm.nih.gov/pubmed/26073755
http://dx.doi.org/10.1016/j.jaci.2015.05.002

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