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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Xehetasun bibliografikoak
Argitaratua izan da:J Allergy Clin Immunol
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Mosby 2015
Gaiak:
Atopic Dermatitis and Skin Disease
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4649901/
https://ncbi.nlm.nih.gov/pubmed/26073755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2015.05.002
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