Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin

    Patrick L.J.M. Zeeuwen, E. van den Bogaard, Michel van Geel … Joost Schalkwijk
    Studysummary This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.
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