A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report.

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Authors
Elamin, Wael F
de Buyl, Olivier
Affiliation
Bantry General Hospital, Bantry, Co, Cork, Ireland. wael@elamin.net.
Issue Date
2010

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Citation
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. 2010, 4:349 J Med Case Reports
Journal
Journal of medical case reports
URI
http://hdl.handle.net/10147/204629
DOI
10.1186/1752-1947-4-349
PubMed ID
21034470
Additional Links
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987963/?tool=pubmed
Abstract
Familial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons. Disorders of calcium metabolism can be multifarious in the elderly. We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia.
Item Type
Article
Language
en
ISSN
1752-1947
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