Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies

    June 2022 in “ European journal of human genetics ”
    Mine Koprulu, Muhammad Naeem, Gökhan Nalbant … Aslıhan Tolun
    Studysummary This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
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    Research cited in this study 3

    1. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012
    2. Keratin Disorders: From Gene to Therapy Human molecular genetics online/Human molecular genetics · 2011
    3. Keratin 17 Null Mice Exhibit Age- And Strain-Dependent Alopecia Genes & Development · 2002