Article
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.
The Journal of clinical endocrinology and metabolism - 1 Aug 2003
Hendy Geoffrey N, Minutti Carla, Canaff Lucie, Pidasheva Svetlana, Yang Bing, Nouhi Zaynab, Zimmerman Donald, Wei Cuihong, Cole David E C
Abstract excerpt
De novo activating mutations in the calcium-sensing receptor (CASR) gene are a common cause of sporadic isolated hypoparathyroidism. Here, we describe a family in which two affected siblings were found to be heterozygous for a novel F788L mutation in the fifth transmembrane domain encoded by exon 7 of the CASR. Both parents and the third sibling were clinically unaffected and genotypically normal by direct...
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