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    1. 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 <i>VDR</i> mutation 2018 · 6 citations
    2. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor Journal of Bone and Mineral Research · 2011 · 37 citations
    3. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    4. The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed Journal of bone and mineral research · 1998 · 1308 citations
    5. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    6. The role of vitamin D receptor mutations in the development of alopecia Molecular and Cellular Endocrinology · 2011 · 109 citations
    7. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    8. Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor Journal of bone and mineral research · 1998 · 47 citations
    9. A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia Endocrinology · 2014 · 25 citations
    10. A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling Hormone Research in Paediatrics · 2006 · 21 citations
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