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    1. 1,25-dihydroxyvitamin D resistance, rickets, and alopecia The American Journal of Medicine · 1984 · 110 citations
    2. Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects* 1983 · 88 citations
    3. Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene Journal of Veterinary Internal Medicine · 2009 · 30 citations
    4. A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia Endocrinology · 2014 · 25 citations
    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 · 10 citations
    6. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004 · 67 citations
    7. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets KARGER eBooks · 2003 · 29 citations
    8. ANALYSIS OF THE RELATION BETWEEN ALOPECIA AND RESISTANCE TO 1,25‐DIHYDROXYVITAMIN D Clinical Endocrinology · 1986 · 100 citations
    9. 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 · 50 citations
    10. 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
    11. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    12. Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D Journal of Bone and Mineral Research · 2002 · 47 citations
    13. VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D Clinical endocrinology · 1981 · 82 citations
    14. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    15. Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia European journal of pediatrics · 1986 · 50 citations
    16. 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
    17. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008 · 24 citations
    18. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016 · 8 citations
    19. The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin D3 The Journal of Steroid Biochemistry and Molecular Biology · 2015 · 37 citations
    20. 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
    21. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    22. Enhancing 1α-Hydroxylase Activity with the 25-Hydroxyvitamin D-1α-Hydroxylase Gene in Cultured Human Keratinocytes and Mouse Skin Journal of Investigative Dermatology · 2001 · 18 citations
    23. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    24. A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses Bone · 2014 · 12 citations
    25. Hereditary vitamin D rickets: a case series in a family 2014 · 6 citations
    26. Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature International Journal of Dermatology · 2003 · 31 citations
    27. Vitamin D-dependent Rickets Type II Journal of medical and health studies · 2023
    28. Type II Vitamin D Dependent Rickets: A Case Report Journal of Nepal Paediatric Society · 1970 · 5 citations
    29. Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene Clinical Pediatric Endocrinology · 1992 · 3 citations
    30. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024