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Case Reports
Journal Article
Hereditary vitamin D rickets: a case series in a family.
Journal of Pediatric Endocrinology & Metabolism : JPEM 2014 November
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.
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