A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
<p>Abstract</p> <p>Introduction</p> <p>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 v...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-10-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/4/1/349 |