Forms and Documents
- An individual with primary hyperparathyroidism and ossifying fibroma(s) of the jaw
- An individual with early-onset primary hyperparathyroidism (age <45 years)
- Children diagnosed with ossifying fibroma(s) of the maxilla or mandible
- An individual with sporadic and/or early-onset parathyroid carcinoma or adenoma
- An individual with primary hyperparathyroidism or ossifying jaw fibromas and a personal or family history of features associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) such as renal cysts or tumors
- Familial primary hyperparathyroidism with negative genetic testing for multiple endocrine neoplasia type 1 (MEN1)
- An unaffected individual with a family history suggestive of CDC73 related conditions (see above) when an affected individual is unavailable for his or her own genetic testing.
- Masi et al., (2008) Endocr Relat Cancer 15(4):1115-1126.
- Carpten, J. D. et al., (2002) Nature Genet 32: 676-80.
- Shattuck, T. et al., (2003) N Engl J Med 349: 1722-9.
- Villablanca, A. et al., (2004) J Med Genet 41: e32.
- Warner, J. et al., (2004)J Med Genet 41: 155-60.
- Mizusawa, N. et al., (2006) Clin Endocrinol 65: 9-16.
- Cascon et al., (2011) Genes Chromosomes Cancer 50(11):922-929.
- Domingues et al., (2012) Clin Endocrinol 76(1):33-38.