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    Did you mean Hereditary Vitamin D Resistant Rickets?
    Glossary Hereditary Vitamin D Resistant Rickets

    genetic disorder causing poor bone development despite normal vitamin D levels

    Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare genetic disorder where the body is unable to properly respond to vitamin D, leading to poor bone development and rickets despite normal or high levels of vitamin D in the blood. This condition is caused by mutations in the vitamin D receptor (VDR) gene, which impairs the body's ability to absorb calcium and phosphate, essential for healthy bone formation.

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    1. Commonly associated disorders with complete scalp alopecia in early childhood: A review International journal of trichology · 2023
    2. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    3. 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    4. SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    5. Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy European Journal of Pediatrics · 1989 · 47 citations
    6. Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene Endocrine · 2011 · 8 citations
    7. Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets International Journal of Contemporary Pediatrics · 2023
    8. 1,25-dihydroxyvitamin D resistance, rickets, and alopecia The American Journal of Medicine · 1984 · 110 citations
    9. Vitamin D and the Parenteral Nutrition Patient Gastroenterology · 2009 · 23 citations
    10. Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study Clinical, Cosmetic and Investigational Dermatology · 2019 · 7 citations
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