A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses

    September 2014 in “ Bone ”
    Bram C. J. van der Eerden, Josine C. van der Heyden, Jan Piet van Hamburg … Johannes P.T.M. van Leeuwen
    Studysummary This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
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    Research cited in this study 1

    1. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets KARGER eBooks · 2003