[1]
Lee JY, Shoback DM. Familial hypocalciuric hypercalcemia and related disorders. Best practice & research. Clinical endocrinology & metabolism. 2018 Oct:32(5):609-619. doi: 10.1016/j.beem.2018.05.004. Epub 2018 May 26
[PubMed PMID: 30449544]
[2]
Law WM Jr, Heath H 3rd. Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families. Annals of internal medicine. 1985 Apr:102(4):511-9
[PubMed PMID: 3977197]
[3]
Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. The Journal of clinical investigation. 1995 Dec:96(6):2683-92
[PubMed PMID: 8675635]
[4]
Heath H 3rd, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. American journal of human genetics. 1993 Jul:53(1):193-200
[PubMed PMID: 8317484]
[5]
Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. American journal of human genetics. 1999 Jan:64(1):189-95
[PubMed PMID: 9915958]
[6]
Pallais JC, Kemp EH, Bergwitz C, Kantham L, Slovik DM, Weetman AP, Brown EM. Autoimmune hypocalciuric hypercalcemia unresponsive to glucocorticoid therapy in a patient with blocking autoantibodies against the calcium-sensing receptor. The Journal of clinical endocrinology and metabolism. 2011 Mar:96(3):672-80. doi: 10.1210/jc.2010-1739. Epub 2010 Dec 15
[PubMed PMID: 21159843]
[7]
Tfelt-Hansen J, Brown EM. The calcium-sensing receptor in normal physiology and pathophysiology: a review. Critical reviews in clinical laboratory sciences. 2005:42(1):35-70
[PubMed PMID: 15697170]
[8]
Riccardi D, Brown EM. Physiology and pathophysiology of the calcium-sensing receptor in the kidney. American journal of physiology. Renal physiology. 2010 Mar:298(3):F485-99. doi: 10.1152/ajprenal.00608.2009. Epub 2009 Nov 18
[PubMed PMID: 19923405]
[9]
Brown EM. Clinical lessons from the calcium-sensing receptor. Nature clinical practice. Endocrinology & metabolism. 2007 Feb:3(2):122-33
[PubMed PMID: 17237839]
[10]
Michigami T. [Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]. Clinical calcium. 2017:27(4):521-527
[PubMed PMID: 28336828]
[11]
Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine. 2017 Mar:55(3):741-747. doi: 10.1007/s12020-017-1241-5. Epub 2017 Feb 7
[PubMed PMID: 28176280]
[12]
Ghaznavi SA, Saad NM, Donovan LE. The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature. Case reports in endocrinology. 2016:2016():2725486
[PubMed PMID: 27957351]
Level 3 (low-level) evidence
[13]
Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best practice & research. Clinical rheumatology. 2008 Mar:22(1):129-48. doi: 10.1016/j.berh.2007.11.006. Epub
[PubMed PMID: 18328986]
[14]
Marx SJ, Simonds WF, Agarwal SK, Burns AL, Weinstein LS, Cochran C, Skarulis MC, Spiegel AM, Libutti SK, Alexander HR Jr, Chen CC, Chang R, Chandrasekharappa SC, Collins FS. Hyperparathyroidism in hereditary syndromes: special expressions and special managements. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2002 Nov:17 Suppl 2():N37-43
[PubMed PMID: 12412776]