Associated Papers
Structural and functional insights into Vitamin D receptor mutations: An in-silico investigation of polymorphism-induced resistance.
Lohani M et al.
Biophysical Chemistry, 2026
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.
Dodamani MH et al.
Calcified Tissue International, 2023
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.
Faiyaz-Ul-Haque M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.
Brar PC et al.
Case Reports in Endocrinology, 2017
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.
Feldman D et al.
Bonekey Reports, 2014
Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia.
Papadopoulou A et al.
Hormone Research in Paediatrics, 2014
Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor.
Aljubeh JM et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
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