Cardiometabolic Phenotyping of Patients With Familial Hypocalcuric Hypercalcemia
Author(s) -
Peter Wolf,
Martin Krššák,
Yvonne Winhofer,
Christian Anderwald,
Elisabeth Zwettler,
Ivica Just Kukurová,
Alois Gessl,
Siegfried Trattnig,
Anton Luger,
Sabina BaumgartnerParzer,
Michael Krebs
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2014-1541
Subject(s) - medicine , endocrinology , insulin , calcium , adipose tissue , chemistry
Heterozygous inactivating mutations of the calcium-sensing receptor (CaSR) gene cause alterations in calcium metabolism [familial hypocalciuric hypercalcemia (FHH)]. In addition, calcium-sensing receptor is expressed in the myocardium and endocrine cells including pancreatic islets, enteroendocrine cells, and adipose tissue.
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