Abstract

This prospective investigation of families with Familial Hypocalciuric Hypercalcemia (FHH) will clarify the molecular genetics of the disorder and assess currently available diagnostic tests. Familial hypocalciuric hypercalcemia, which has also been known as familial benign hypercalcemia, is an autosomal dominantly inherited disorder. FHH begins with hypercalcemia in childhood and is usually asymptomatic throughout the patient's life. The major morbidity of the disorder is that it is often confused with primary hyperparathyroidism, resulting in unnecessary neck exploration.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000056-35
Application #
5218438
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
35
Fiscal Year
1996
Total Cost
Indirect Cost

  Publications

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Geskin, Larisa J; Akilov, Oleg E; Kwon, Soonyou et al. (2018) Therapeutic reduction of cell-mediated immunosuppression in mycosis fungoides and Sézary syndrome. Cancer Immunol Immunother 67:423-434
Ong, Jue-Sheng; Hwang, Liang-Dar; Cuellar-Partida, Gabriel et al. (2018) Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. Int J Epidemiol 47:450-459

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