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Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient
Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy...
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| Опубликовано в: : | Bone Res |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2017
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5486235/ https://ncbi.nlm.nih.gov/pubmed/28690912 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/boneres.2017.1 |
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