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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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| Publicat a: | Endocrinol Diabetes Metab Case Rep |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Bioscientifica Ltd
2015
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| Matèries: | |
| Accés en línia: | 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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