Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

    February 2012 in “ Journal of Investigative Dermatology ”
    Neil Wilson, Mónica L. Cárdenas Pérez, Anders Vahlquist … Frances J.D. Smith
    Studysummary A specific gene mutation causes severe skin and nail issues and hair loss.
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    Research cited in this study 3

    1. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    2. Keratin 17 Null Mice Exhibit Age- And Strain-Dependent Alopecia Genes & Development · 2002
    3. Keratin 17 Mutations Cause Either Steatocystoma Multiplex or Pachyonychia Congenita Type 2 British Journal of Dermatology · 1998