A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation

    October 2019 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Steffen Hörer, Slaheddine Marrakchi, Franz P.W. Radner … Judith Fischer
    Studysummary This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
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    Research cited in this study 1

    1. Phospholipase Cδ1 Is Required for Skin Stem Cell Lineage Commitment The EMBO Journal · 2003