Phenotypic Heterogeneity in Five Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene

    January 1992 in “ Clinical Pediatric Endocrinology
    Takahiko Saijo, Eiji Takeda, Michinori Ito, Etsuo Naito, Ichiro Yokota, Junko Matsuda, Yasuhiro Kuroka
    Image
    Studysummary This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →

    Research cited in this study

    3 / 3 results