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Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation...
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| 發表在: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Bioscientifica Ltd
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4439728/ https://ncbi.nlm.nih.gov/pubmed/26019872 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0016 |
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