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Urinary calcium to creatinine clearance ratio was low, and a subsequent genetic analysis confirmed a novel mutation (<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content>164<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>) in the calcium sensing receptor gene, consistent with familial hypocalciuric hypercalcaemia. We propose that this mutation accounts for her clinical and investigational findings, although a double pathology of <jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content>164<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content> and an ectopic parathyroid adenoma is also conceivable.<\/jats:p>","DOI":"10.1111\/imj.12383","type":"journal-article","created":{"date-parts":[[2014,4,23]],"date-time":"2014-04-23T05:52:05Z","timestamp":1398232325000},"page":"413-416","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel inactivating mutation of the calcium\u2010sensing receptor in a young woman with mild hypercalcaemia"],"prefix":"10.1111","volume":"44","author":[{"given":"D. D. 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