Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.

@article{Zhou2009CompoundHM,
  title={Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.},
  author={Yulin Zhou and Jining Wang and Peter J. Malloy and Zdeněk Dole{\vz}el and David Feldman},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2009},
  volume={24 4},
  pages={643-51}
}
Hereditary vitamin D-resistant rickets (HVDRR) is a rare recessive genetic disorder caused by mutations in the vitamin D receptor (VDR). In this study, we examined the VDR in a young girl with clinical features of HVDRR including rickets, hypophosphatemia, and elevated serum 1,25(OH)(2)D. The girl also had total alopecia. Two mutations were found in the VDR gene: a nonsense mutation (R30X) in the DNA-binding domain and a unique 3-bp in-frame deletion in exon 6 that deleted the codon for lysine… CONTINUE READING

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