Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

    November 2008 in “ Arquivos Brasileiros de Endocrinologia & Metabologia ”
    Luciana Cosentino de Macedo, Fernanda Caroline Soardi, Nayla Ananias … Lília D’Souza-Li
    Studysummary In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
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    Research cited in this study 4

    1. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004
    2. Two Siblings With Vitamin-D-Dependent Rickets Type II: No Recurrence Of Rickets For 14 Years After Cessation Of Therapy European Journal of Pediatrics · 1989
    3. Calcitriol-Resistant Rickets With Alopecia Archives of Dermatology · 1985
    4. Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism ˜The œjournal of pediatrics/˜The œJournal of pediatrics · 1979