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  • Title: Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
    Author: Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M.
    Journal: J Invest Dermatol; 1999 Nov; 113(5):848-50. PubMed ID: 10571744.
    Abstract:
    Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.
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