{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:25:23Z","timestamp":1779233123897,"version":"3.51.4"},"reference-count":16,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.ejmg.2016.02.001","type":"journal-article","created":{"date-parts":[[2016,2,6]],"date-time":"2016-02-06T20:30:23Z","timestamp":1454790623000},"page":"227-231","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia"],"prefix":"10.1016","volume":"59","author":[{"given":"Heidi","family":"Murphy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Patrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eileen","family":"B\u00e1ez-Irizarry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Lacassie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4507-7653","authenticated-orcid":false,"given":"Ricardo","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian","family":"Barkemeyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sohit","family":"Kanotra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina M.","family":"Zambrano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2016.02.001_bib1","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.bone.2014.04.010","article-title":"Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet","volume":"64","author":"Atay","year":"2014","journal-title":"Bone"},{"issue":"5","key":"10.1016\/j.ejmg.2016.02.001_bib2","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.ijporl.2015.02.029","article-title":"Unusual case of neonatal hypoercalcemia","volume":"79","author":"Brickman","year":"2015","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.ejmg.2016.02.001_bib3","unstructured":"Calcium Sensing Receptor Database. http:\/\/www.casrdb.mcgill.ca\/. Accessed May 26, 2015."},{"issue":"164A","key":"10.1016\/j.ejmg.2016.02.001_bib4","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1002\/ajmg.a.36430","article-title":"Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity","volume":"2013","author":"Casci","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"5","key":"10.1016\/j.ejmg.2016.02.001_bib5","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2006-3209","article-title":"Neonatal Hyperparathyroidism Therapy in an extremely premature infant","volume":"120","author":"Fox","year":"2007","journal-title":"Pediatrics"},{"issue":"1","key":"10.1016\/j.ejmg.2016.02.001_bib6","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1210\/jc.2013-2834","article-title":"Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review","volume":"99","author":"Gannon","year":"2014","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2016.02.001_bib7","doi-asserted-by":"crossref","first-page":"e1203","DOI":"10.1542\/peds.2013-3668","article-title":"Intraoperative parathyroid hormone monitoring in neonatal severe primary hyperparathyroidism","volume":"134","author":"Garcia-Garcia","year":"2014","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2016.02.001_bib8","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.beem.2013.04.007","article-title":"Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte, and water metabolism","volume":"27","author":"Hannan","year":"2013","journal-title":"Best. Pract. Res. Clin. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.ejmg.2016.02.001_bib9","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1124\/jpet.109.159228","article-title":"Effect of the calcimimetic R-568 [3-(2 chlorophenyl)-N-((1R)-1-(3-methoxyphenyl) ethyl)-1- propanamine] on correcting inactivating mutations in the human calcium- sensing receptor","volume":"331","author":"Lu","year":"2009","journal-title":"J.\u00a0Pharmacol. Exp. Ther."},{"issue":"4","key":"10.1016\/j.ejmg.2016.02.001_bib10","doi-asserted-by":"crossref","first-page":"E707","DOI":"10.1210\/jc.2010-1306","article-title":"Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet","volume":"96","author":"Reh","year":"2011","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2016.02.001_bib11","first-page":"P2","article-title":"New mutation in the CaSR involving three generations in a family with hypocalciuric hypercalcemia","author":"Rodrigues","year":"2009","journal-title":"Endocr. Soc. Congr."},{"issue":"12","key":"10.1016\/j.ejmg.2016.02.001_bib12","doi-asserted-by":"crossref","first-page":"4797","DOI":"10.1210\/jc.2008-1076","article-title":"Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors","volume":"93","author":"Rus","year":"2008","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ejmg.2016.02.001_bib13","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1159\/000350540","article-title":"Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet","volume":"104","author":"Soblechero","year":"2013","journal-title":"Neonatology"},{"key":"10.1016\/j.ejmg.2016.02.001_bib14","unstructured":"United States Food and Drug Administration. Sensipar (cinacalcet hydrochloride): Drug Safety Communication. FDA suspends pediatric clinical trials after report of death. http:\/\/www.fda.gov\/safety\/MedWatch\/SafetyInformation\/SafetyAlertsforHumanMedicalProducts\/ucm341255.htm. Published February 26, 2013. Accessed May 21, 2015."},{"issue":"3","key":"10.1016\/j.ejmg.2016.02.001_bib15","doi-asserted-by":"crossref","first-page":"e812","DOI":"10.1542\/peds.2011-0128","article-title":"Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism","volume":"129","author":"Wilhem-Bals","year":"2012","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2016.02.001_bib16","series-title":"Presented at the 64th Annual Meeting of the American Society of Human Genetics, October, 19 2014 in San Diego, California","article-title":"Should the American college of medical genetics expand the required reportable disorders or findings on exome sequencing? reporting a recent experience; (2588S)","author":"Zambrano","year":"2014"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121630012X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121630012X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:25Z","timestamp":1761709405000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121630012X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["S176972121630012X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}