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  • Title: Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
    Author: Irvine AD.
    Journal: J Invest Dermatol; 2012 Jul; 132(7):1757-9. PubMed ID: 22695286.
    Abstract:
    In this issue, Wilson et al. report the first case of homozygous dominant negative mutations in KRT17 in pachyonychia congenita (PC). Homozygous dominant negative mutations are a rare occurrence in keratin disorders and this is a first report in PC. These mutations cause a distinct sub-phenotype of PC that is more severe in the offspring of affected parents and has associated alopecia.
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