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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Allergy Clin Immunol
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Mosby 2015
Θέματα:
Atopic Dermatitis and Skin Disease
Διαθέσιμο Online: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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