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Page 1
Beneficial effect of acitretin in Chanarin-Dorfman syndrome.
Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E. Israeli S, et al. Among authors: sprecher e. Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10. Clin Exp Dermatol. 2012. PMID: 21981352
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
Indelman M, Eason J, Hummel M, Loza O, Suri M, Leys MJ, Bayne M, Schwartz FL, Sprecher E. Indelman M, et al. Among authors: sprecher e. Clin Exp Dermatol. 2007 Mar;32(2):191-6. doi: 10.1111/j.1365-2230.2006.02335.x. Clin Exp Dermatol. 2007. PMID: 17342797
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E. Hershkovitz D, et al. Among authors: sprecher e. Clin Exp Dermatol. 2009 Mar;34(2):224-8. doi: 10.1111/j.1365-2230.2008.02733.x. Epub 2008 Nov 6. Clin Exp Dermatol. 2009. PMID: 19018793
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E. Basel-Vanagaite L, et al. Among authors: sprecher e. Am J Hum Genet. 2009 Aug;85(2):254-63. doi: 10.1016/j.ajhg.2009.07.001. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631308 Free PMC article.
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E. Fuchs-Telem D, et al. Among authors: sprecher e. Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17. Br J Dermatol. 2011. PMID: 21073448
578 results