Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

    June 2018 in “ Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism ”
    Muhammad Faiyaz‐Ul‐Haque, Waheeb AlDhalaan, Abdullah A. Al-Ashwal … Syed Hassan Ejaz Zaidi
    Studysummary In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
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    Research cited in this study 8

    1. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015
    2. Novel Mechanisms for the Vitamin D Receptor in the Skin and in Skin Cancer The Journal of Steroid Biochemistry and Molecular Biology · 2014
    3. A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia Endocrinology · 2014
    4. Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets BoneKEy Reports · 2014
    5. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia in Four Egyptian Families: Report of Three Novel Mutations in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2014
    6. Hereditary Vitamin D Rickets: A Case Series in a Family Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism · 2014
    7. Physiological Insights from the Vitamin D Receptor Knockout Mouse Calcified Tissue International · 2012
    8. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011