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 |
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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
- General Medicine
- Biochemistry, medical
- Endocrinology, Diabetes and Metabolism