Article
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Molecular genetics and metabolism - 1 Nov 2012
Guarnieri Vito, Valentina D'Elia Angela, Baorda Filomena, Pazienza Valerio, Benegiamo Giorgia, Stanziale Pietro, Copetti Massimiliano, Battista Claudia, Grimaldi Franco, Damante Giuseppe, Pellegrini Fabio, D'Agruma Leonardo, Zelante Leopoldo, Carella Massimo, Scillitani Alfredo
Abstract excerpt
BACKGROUND: Autosomal dominant hypocalcemia (ADH) is an endocrine disorder caused by activating mutations of the calcium-sensing receptor (CASR) gene which plays a major role in maintaining calcium homeostasis. Biochemical features of ADH are hypocalcemia and hypercalciuria with inappropriately low levels of parathyroid hormone (PTH). We report on two four-generation families affected by ADH. AIM: To identify...
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