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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Samuelov L, et al. Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974871 Free PMC article.
Diffuse scalp alopecia in a middle-aged patient.
Samuelov L, Arad U, Gat A, Pavlovsky M, Sprecher E, Matz H. Samuelov L, et al. Clin Exp Dermatol. 2013 Dec;38(8):936-9. doi: 10.1111/ced.12091. Epub 2013 Jun 10. Clin Exp Dermatol. 2013. PMID: 23745963 No abstract available.
Inherited desmosomal disorders.
Samuelov L, Sprecher E. Samuelov L, et al. Cell Tissue Res. 2015 Jun;360(3):457-75. doi: 10.1007/s00441-014-2062-y. Epub 2014 Dec 9. Cell Tissue Res. 2015. PMID: 25487406 Review.
A case for diagnosis.
Samuelov L, Sarig O, Goldsmith T, Pavlovsky M, Goldberg I, Sagie S, Selig S, Sprecher E. Samuelov L, et al. Clin Exp Dermatol. 2015 Aug;40(6):697-9. doi: 10.1111/ced.12599. Epub 2015 Feb 22. Clin Exp Dermatol. 2015. PMID: 25703141 No abstract available.
65 results