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Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Heterogeneous loss of function mutations in the vitamin D receptor (VDR) interfere with vitamin D signaling and cause hereditary vitamin D-resistant rickets (HVDRR). HVDRR is characterized by hypocalcemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is often associate...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2014
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4015455/ https://ncbi.nlm.nih.gov/pubmed/24818002 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/bonekey.2014.5 |
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