A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes

    September 2016 in “ Journal of Dermatological Science ”
    Kosuke Yoshimi, Yumi Okubo, Susumu Ikehara … Atsushi Utani
    Studysummary This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
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