Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

M.A. Nesbit, F.M. Hannan, U. Graham, M.P. Whyte, Patrick Morrison, S.J. Hunter, R.V. Thakker

Research output: Contribution to journalArticle

25 Citations (Scopus)

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 languageEnglish
Pages (from-to)1947-1954
Number of pages8
JournalThe Journal of clinical endocrinology and metabolism
Volume95
Issue number4
DOIs
Publication statusPublished - Apr 2010

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Medicine(all)
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism

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