GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts

    Ahmed Yousaf, Michael S. Kolodney
    Studysummary This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
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    Research cited in this study 2

    1. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2019
    2. Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: An Update Journal of Dermatological Science · 2012