{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T01:36:20Z","timestamp":1773797780693,"version":"3.50.1"},"reference-count":10,"publisher":"The Endocrine Society","issue":"7","funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["PTDC\/SAU-GMG\/098419\/2008"],"award-info":[{"award-number":["PTDC\/SAU-GMG\/098419\/2008"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/81765\/2011"],"award-info":[{"award-number":["SFRH\/BD\/81765\/2011"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,1]]},"DOI":"10.1210\/jc.2019-00081","type":"journal-article","created":{"date-parts":[[2019,3,19]],"date-time":"2019-03-19T22:25:08Z","timestamp":1553034308000},"page":"2851-2854","source":"Crossref","is-referenced-by-count":8,"title":["Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation"],"prefix":"10.1210","volume":"104","author":[{"given":"Eduarda","family":"Coutinho","sequence":"first","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilh\u00e3, Portugal"}]},{"given":"Carla Maria","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Pediatria, Centro Hospitalar T\u00e2mega e Sousa, Penafiel, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9326-8900","authenticated-orcid":false,"given":"Manuel Carlos","family":"Lemos","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilh\u00e3, Portugal"}]}],"member":"80","published-online":{"date-parts":[[2019,3,19]]},"reference":[{"issue":"6","key":"2019053106102716400_bib1","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1210\/er.2016-1101","article-title":"Genetics of combined pituitary hormone deficiency: roadmap into the genome era","volume":"37","author":"Fang","year":"2016","journal-title":"Endocr Rev"},{"issue":"8","key":"2019053106102716400_bib2","doi-asserted-by":"crossref","first-page":"3869","DOI":"10.1074\/jbc.270.8.3869","article-title":"Sequence, genomic organization, and expression of the novel homeobox gene Hesx1","volume":"270","author":"Thomas","year":"1995","journal-title":"J Biol Chem"},{"issue":"2","key":"2019053106102716400_bib3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/477","article-title":"Mutations in the homeobox gene HESX1\/Hesx1 associated with septo-optic dysplasia in human and mouse","volume":"19","author":"Dattani","year":"1998","journal-title":"Nat Genet"},{"issue":"6","key":"2019053106102716400_bib4","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1016\/j.beem.2016.09.005","article-title":"Genetic causes of isolated and combined pituitary hormone deficiency","volume":"30","author":"Giordano","year":"2016","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"7616","key":"2019053106102716400_bib5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"issue":"10","key":"2019053106102716400_bib6","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1186\/s13073-014-0087-1","article-title":"Computational approaches to interpreting genomic sequence variation","volume":"6","author":"Ritchie","year":"2014","journal-title":"Genome Med"},{"issue":"10","key":"2019053106102716400_bib7","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1038\/nrg3051","article-title":"Understanding the contribution of synonymous mutations to human disease","volume":"12","author":"Sauna","year":"2011","journal-title":"Nat Rev Genet"},{"issue":"4","key":"2019053106102716400_bib8","doi-asserted-by":"crossref","first-page":"E694","DOI":"10.1210\/jc.2011-2938","article-title":"Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia","volume":"97","author":"Raivio","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2019053106102716400_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum Genet"},{"issue":"11","key":"2019053106102716400_bib10","doi-asserted-by":"crossref","first-page":"4528","DOI":"10.1210\/jc.2006-0426","article-title":"Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities","volume":"91","author":"Sobrier","year":"2006","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/104\/7\/2851\/28744952\/jc.2019-00081.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T06:10:49Z","timestamp":1559283049000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/7\/2851\/5381917"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,19]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2019,3,19]]},"published-print":{"date-parts":[[2019,7,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2019-00081","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,7]]},"published":{"date-parts":[[2019,3,19]]}}}