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. 1995Jul;10(3):363-5.
Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ,Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ. A spectrum ofmutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J DermatolSci. 2007 Dec;48(3):199-205.
McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and moleculargenetic features of pachyonychia congenita. J Invest Dermatol. 2011May;131(5):1015-7. doi: 10.1038/jid.2011.59.
Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-BernasA, Zeman KJ, Tang JY. Pachyonychia congenita patients with mutations in KRT6Ahave more extensive disease compared with patients who have mutations in KRT16.Br J Dermatol. 2012 Apr;166(4):875-8. doi: 10.1111/j.1365-2133.2011.10745.x.
Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, DavidA, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Novel and recurrentmutations in the genes encoding keratins K6a, K16 and K17 in 13 cases ofpachyonychia congenita. J Invest Dermatol. 2001 Dec;117(6):1391-6.
Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E,Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis ofthe expanding pachyonychia congenita case collection. Br J Dermatol. 2014Aug;171(2):343-55. doi: 10.1111/bjd.12958.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Dean Liu
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?