Pachyonychia congenita
Definition:
References:
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[1]. F J Smith, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. 1998 Jul;7(7):1143-8. [Content Brief]
[2]. Neil J Wilson, et al. A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1018-24. [Content Brief]
[3]. P E Bowden, et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995 Jul;10(3):363-5. [Content Brief]
[4]. W H Irwin McLean, et al. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. [Content Brief]
[5]. W H McLean, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. 1995 Mar;9(3):273-8. [Content Brief]
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