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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverényi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, Whittaker S, Gerdes AM, Broesby-Olsen S, Ferguson-Smith MA, Verma C, Lunny DP, Reversade B, Lane EB. Goudie DR, et al. Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780. Nat Genet. 2011. PMID: 21358634
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?
D'Alessandro M, Coats SE, Morley SM, Mackintosh L, Tessari G, Turco A, Gerdes AM, Pichert G, Whittaker S, Brandrup F, Broesby-Olsen S, Gomez-Lira M, Girolomoni G, Maize JC, Feldman RJ, Kato N, Koga Y, Ferguson-Smith MA, Goudie DR, Lane EB. D'Alessandro M, et al. J Invest Dermatol. 2007 Oct;127(10):2336-44. doi: 10.1038/sj.jid.5700914. Epub 2007 Jun 7. J Invest Dermatol. 2007. PMID: 17554363 Free article.
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.
Kang HC, Quigley DA, Kim IJ, Wakabayashi Y, Ferguson-Smith MA, D'Alessandro M, Birgitte Lane E, Akhurst RJ, Goudie DR, Balmain A. Kang HC, et al. J Invest Dermatol. 2013 Jul;133(7):1907-10. doi: 10.1038/jid.2013.45. Epub 2013 Jan 28. J Invest Dermatol. 2013. PMID: 23358096 Free PMC article. No abstract available.
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ. Moreno JC, et al. N Engl J Med. 2008 Apr 24;358(17):1811-8. doi: 10.1056/NEJMoa0706819. N Engl J Med. 2008. PMID: 18434651 Free article.
505 results