Abstract
Context: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.
| Original language | English |
|---|---|
| Pages (from-to) | 1947-1954 |
| Number of pages | 8 |
| Journal | The Journal of clinical endocrinology and metabolism |
| Volume | 95 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2010 |
ASJC Scopus subject areas
- Biochemistry
- Clinical Biochemistry
- Endocrinology
- Medicine(all)
- Biochemistry, medical
- Endocrinology, Diabetes and Metabolism
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Nesbit, M. A., Hannan, F. M., Graham, U., Whyte, M. P., Morrison, P., Hunter, S. J., & Thakker, R. V. (2010). Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a. The Journal of clinical endocrinology and metabolism, 95(4), 1947-1954. https://doi.org/10.1210/jc.2009-2152