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Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the fun...
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| Pubblicato in: | Bone Res |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4923942/ https://ncbi.nlm.nih.gov/pubmed/27408766 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/boneres.2016.18 |
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