References
McLean WH, Hansen CD, Eliason MJ, Smith FJ. The Phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 2011; 131: 1015–1017.
McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995; 9: 273–278.
Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995; 10: 363–365.
Smith FJ, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998; 7: 1143–1148.
Negi O, Haruna K, Taneda K, Mizuno Y, Suga Y. N125S mutation of keratin 16 causes mild form of pachyonychia congenita in a Japanese pedigree. Proceedings Conference on Disorders of Keratinization 2010; 24: 114–118. (in Japanese).
Eliason MJ, Leachman SA, Feng BJ, Schwatz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 2010; 67: 680–686.
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Inaba, Y., Kanazawa, N., Furukawa, F. et al. Pachyonychia congenita in Japan: report of familial cases with a recurrent KRT16 mutation. Eur J Dermatol 24, 122–123 (2014). https://doi.org/10.1684/ejd.2013.2244
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DOI: https://doi.org/10.1684/ejd.2013.2244