Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma

    November 2011 in “ The Journal of Dermatology
    Jun‐ichi Sakabe, Ryutaro Yoshiki, Kazunari Sugita, Sanehito Haruyama, Yu Sawada, Rieko Kabashima, Toshinori Bito, Motonobu Nakamura, Y. Tokura
    Studysummary This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
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