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Compound Heterozygous Mutations in the Vitamin D Receptor in a Patient With Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets With Alopecia

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 a...

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書誌詳細
主要な著者: Zhou, Yulin, Wang, Jining, Malloy, Peter J, Dolezel, Zdenek, Feldman, David
フォーマット: Artigo
言語:Inglês
出版事項: Amer Soc Bone & Mineral Res. 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2659515/
https://ncbi.nlm.nih.gov/pubmed/19049339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1359/JBMR.081216
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