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A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
INTRODUCTION: Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with fa...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987963/ https://www.ncbi.nlm.nih.gov/pubmed/21034470 http://dx.doi.org/10.1186/1752-1947-4-349 |