Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells

    March 2013 in “ The Journal of Dermatology ”
    Taisuke Ito, Yutaka Shimomura, Muhammad Farooq … Y. Tokura
    Studysummary This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
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