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      Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report

      research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

      January 2024 in “Clinical, cosmetic and investigational dermatology”
      In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
      Vitamin D-Dependent Rickets Type II

      research Vitamin D-dependent Rickets Type II

      July 2023 in “Journal of medical and health studies”
      This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.

      research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets

      October 2024 in “Journal of the Endocrine Society”
      This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.

      research Genetic Disorders and Defects in Vitamin D Action

      151 citations , June 2010 in “Endocrinology and metabolism clinics of North America”
      This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.