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References

These sources were used to develop the Genetics Home Reference condition summary on familial isolated hyperparathyroidism.

Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab. 2000 May;85(5):2042-7. PubMed citation
Cetani F, Pardi E, Borsari S, Marcocci C. Molecular pathogenesis of primary hyperparathyroidism. J Endocrinol Invest. 2011 Jul;34(7 Suppl):35-9. Review. PubMed citation
Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV. Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8. PubMed citation
Masi G, Barzon L, Iacobone M, Viel G, Porzionato A, Macchi V, De Caro R, Favia G, Palù G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. 2008 Dec;15(4):1115-26. doi: 10.1677/ERC-08-0066. Epub 2008 Aug 28. PubMed citation
Pepe J, Cipriani C, Pilotto R, De Lucia F, Castro C, Lenge L, Russo S, Guarnieri V, Scillitani A, Carnevale V, D'Erasmo E, Romagnoli E, Minisola S. Sporadic and hereditary primary hyperparathyroidism. J Endocrinol Invest. 2011 Jul;34(7 Suppl):40-4. Review. PubMed citation
Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore). 2002 Jan;81(1):1-26. Review. PubMed citation