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    Did you mean Pachyonychia Congenita?
    Glossary Pachyonychia Congenita

    rare genetic disorder causing thickened nails and painful skin

    Pachyonychia Congenita (PC) is a rare genetic disorder characterized by thickened nails, painful calluses on the soles of the feet and palms of the hands, and other skin abnormalities. It is caused by mutations in one of several keratin genes, which are essential for the structural integrity of skin, hair, and nails.

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    Research 10 of 182

    1. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology · 1998 · 175 citations
    2. A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb British Journal of Dermatology · 2008 · 5 citations
    3. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    4. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    5. <i>In vivo</i> alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting Experimental Dermatology · 2003 · 8 citations
    6. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    7. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    8. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    9. KRT16 wt Allele Definitions · 2020
    10. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
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