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MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
Mangold E, Rahner N, Friedrichs N, Buettner R, Pagenstecher C, Aretz S, Friedl W, Ruzicka T, Propping P, Rütten A, Kruse R. Mangold E, et al. Among authors: rutten a. Br J Dermatol. 2007 Jan;156(1):158-62. doi: 10.1111/j.1365-2133.2006.07607.x. Br J Dermatol. 2007. PMID: 17199584 No abstract available.
Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.
Kruse R, Rütten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, Jungck M, Mathiak M, Ruzicka T, Hartschuh W, Bisceglia M, Friedl W, Propping P. Kruse R, et al. Among authors: rutten a. Am J Hum Genet. 1998 Jul;63(1):63-70. doi: 10.1086/301926. Am J Hum Genet. 1998. PMID: 9634524 Free PMC article.
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R. Betz RC, et al. Among authors: rutten a. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19. Am J Hum Genet. 2006. PMID: 16465624 Free PMC article.
477 results