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Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
Vitamin D‐dependent rickets type 1 VDDR‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long‐time follow‐up of a case with a novel mutation including high‐resolution peripheral quantitative computed tomography of the bone. Adequat...
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| Pubblicato in: | Clin Case Rep |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4693699/ https://ncbi.nlm.nih.gov/pubmed/26734137 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.406 |
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