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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Allergy Clin Immunol
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Mosby 2015
נושאים:
Atopic Dermatitis and Skin Disease
גישה מקוונת: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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