A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1186/1752-1947-4-349/fulltext.html
Reference15 articles.
1. Gunn IR, Gaffney D: Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. Ann Clin Biochem. 2004, 41: 441-458. 10.1258/0004563042466802.
2. Lyons TJ, Crookes PF, Postlethwaite W, Sheridan B, Brown RC, Atkinson AB: Familial hypocalciuric hypercalcaemia as a differential diagnosis of hyperparathyroidism: studies in a large kindred and a review of surgical experience in the condition. Br J Surg. 1986, 225: 188-192. 10.1002/bjs.1800730310.
3. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993, 75: 1297-1303. 10.1016/0092-8674(93)90617-Y.
4. Brown EM, Pollak MR, Seidman CE, Seidman JG, Chou Y-HW, Riccardi D, Hebert SC: Calcium-ion-sensing cell-surface receptors. N Engl J Med. 1995, 333: 234-240. 10.1056/NEJM199508243330826.
5. Egbuna OI, Brown EM: Hypercalcaemic and hypocalcaemic conditions due to calcium sensing receptor mutations. Best Pract Res Clin Rheumatol. 2008, 22: 129-10.1016/j.berh.2007.11.006.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Familial hypocalciuric hypercalcaemia;Current Opinion in Endocrinology, Diabetes & Obesity;2011-12
2. Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis;European Journal of Endocrinology;2011-08
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