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Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HV...
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| Yayımlandı: | PLoS One |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Public Library of Science
2015
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4589239/ https://ncbi.nlm.nih.gov/pubmed/26422470 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0138152 |
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