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Expanding the Phenotypic Spectrum of Olmsted Syndrome.
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, Irwin McLean WH, Smith FJD. Wilson NJ, et al. J Invest Dermatol. 2015 Nov;135(11):2879-2883. doi: 10.1038/jid.2015.217. Epub 2015 Jun 12. J Invest Dermatol. 2015. PMID: 26067147 Free PMC article. No abstract available.
Keratin K6c mutations cause focal palmoplantar keratoderma.
Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Wilson NJ, et al. J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16. J Invest Dermatol. 2010. PMID: 19609311 Free article.
A large mutational study in pachyonychia congenita.
Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. Wilson NJ, et al. J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17. J Invest Dermatol. 2011. PMID: 21326300 Free article.
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: wilson nj. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
A novel KRT6A mutation in a case of pachyonychia congenita from India.
Tiwary AK, Wilson NJ, Schwartz ME, Smith FJ. Tiwary AK, et al. Among authors: wilson nj. Indian J Dermatol Venereol Leprol. 2017 Jan-Feb;83(1):95-98. doi: 10.4103/0378-6323.193620. Indian J Dermatol Venereol Leprol. 2017. PMID: 27852996 Free article. No abstract available.
313 results