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Following the detection of relative hypercalciuria, all cases were found to have autosomal dominant hypocalcaemia with hypercalciuria and mutations of the calcium-sensing receptor gene, of which two were novel. Increased awareness of this condition and access to genotyping enables prompt accurate diagnosis and cascade screening of first-degree relatives.<\/jats:p>","DOI":"10.1258\/acb.2010.010139","type":"journal-article","created":{"date-parts":[[2011,3,25]],"date-time":"2011-03-25T22:38:31Z","timestamp":1301092711000},"page":"286-290","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene"],"prefix":"10.1177","volume":"48","author":[{"given":"Belinda J","family":"Schouten","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Christchurch Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony M","family":"Raizis","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Unit, Canterbury Health Laboratories, 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