Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes

    January 2017 in “ Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism ”
    Rabih R. Andary, Ahmad Sleiman, Theresa Farhat … Georges Nemer
    Studysummary This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
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    Research cited in this study 4

    1. Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer Biological & pharmaceutical bulletin · 2012
    2. Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor Journal of Bone and Mineral Research · 2011
    3. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    4. Ligand-Independent Regulation of the Hairless Promoter by Vitamin D Receptor Photochemistry and photobiology · 2008