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Results 1 - 4 of 4 for Vitamin "D-dependent" "rickets," type 2
  1. ... called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally ...
  2. ... the CYP27B1 gene have been found to cause vitamin D-dependent rickets type 1A (VDDR1A), also known as vitamin D 1α- ... Y. Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A. PLoS One. 2015 Jul 1;10(7): ...
  3. ... the CYP2R1 gene have been found to cause vitamin D-dependent rickets type 1B (VDDR1B). This disorder of bone development is ... Sorlin A, Jones G, Kottler ML, Feillet F. Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or ...
  4. ... calcitriol binding. Mutations in the VDR gene cause vitamin D-dependent rickets type 2A (VDDR2A), also known as hereditary vitamin D-resistant rickets (HVDRR). This disorder of bone ...