Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets

    June 2016 in “ Bone Research ”
    Qi Pang, Xuan Qi, Yan Jiang … Weibo Xia
    Studysummary In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
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    Research cited in this study 6

    1. A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses Bone · 2014
    2. Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets BoneKEy Reports · 2014
    3. Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene Endocrine · 2011
    4. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010
    5. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009
    6. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From a Novel Missense Mutation in the DNA-Binding Domain of the Vitamin D Receptor Molecular Genetics and Metabolism · 2009