{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:04:01Z","timestamp":1791821041725,"version":"4.3.4"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T00:00:00Z","timestamp":1549929600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1007\/s42000-019-00094-9","type":"journal-article","created":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T03:38:18Z","timestamp":1549942698000},"page":"223-227","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance"],"prefix":"10.1007","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9093-6205","authenticated-orcid":false,"given":"Ozlem","family":"Korkmaz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samim","family":"Ozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taha Resid","family":"Ozdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damla","family":"Goksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukran","family":"Darcan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,2,12]]},"reference":[{"key":"94_CR1","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1124\/pr.58.4.3","volume":"58","author":"F Flamant","year":"2006","unstructured":"Flamant F, Baxter JD, Forrest D et al (2006) International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev 58:705\u2013711","journal-title":"Pharmacol Rev"},{"key":"94_CR2","first-page":"3609","volume":"85","author":"S Reutrakul","year":"2000","unstructured":"Reutrakul S, Sadow PM, Pannain S et al (2000) Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab 85:3609\u20133617","journal-title":"J Clin Endocrinol Metab"},{"key":"94_CR3","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1056\/NEJMoa1110296","volume":"366","author":"E Bochukova","year":"2012","unstructured":"Bochukova E, Schoenmakers N, Agostini M et al (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med 366:243\u2013249","journal-title":"N Engl J Med"},{"key":"94_CR4","doi-asserted-by":"publisher","first-page":"1451","DOI":"10.1056\/NEJMc1113940","volume":"366","author":"A Mullem Van","year":"2012","unstructured":"Van Mullem A, Van Heerebeek R, Chrysis D et al (2012) Clinical phenotype and mutant TRalpha1. N Engl J Med 366:1451\u20131453","journal-title":"N Engl J Med"},{"key":"94_CR5","doi-asserted-by":"publisher","first-page":"2636","DOI":"10.1210\/jc.2016-2317","volume":"101","author":"C Moran","year":"2016","unstructured":"Moran C, Chatterjee K (2016) Resistance to thyroid hormone alphaemerging defiition of a disorder of thyroid hormone action. J Clin Endocrinol Metab 101:2636\u20132639","journal-title":"J Clin Endocrinol Metab"},{"key":"94_CR6","doi-asserted-by":"publisher","first-page":"4254","DOI":"10.1210\/jc.2013-2215","volume":"98","author":"C Moran","year":"2013","unstructured":"Moran C, Schoenmakers N, Agostini M et al (2013) An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha. J Clin Endocrinol Metab 98:4254\u20134261","journal-title":"J Clin Endocrinol Metab"},{"key":"94_CR7","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/S2213-8587(14)70111-1","volume":"2","author":"C Moran","year":"2014","unstructured":"Moran C, Agostini M, Visser WE et al (2014) Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)alpha1 and TRalpha2: clinical, biochemical, and genetic analyses of three related patients. Lancet Diab Endocrinol 2:619\u2013626","journal-title":"Lancet Diab Endocrinol"},{"key":"94_CR8","doi-asserted-by":"publisher","first-page":"3029","DOI":"10.1210\/jc.2013-1050","volume":"98","author":"A Mullem Van","year":"2013","unstructured":"Van Mullem A, Chrysis D, Eythimiadou A et al (2013) Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRalpha1 receptor: consequences of LT4 treatment. J Clin Endocrinol Metab 98:3029\u20133038","journal-title":"J Clin Endocrinol Metab"},{"key":"94_CR9","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1136\/jmedgenet-2014-102936","volume":"52","author":"A Tylki-Szymanska","year":"2015","unstructured":"Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M et al (2015) Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA). J Med Genet 52:312\u2013316","journal-title":"J Med Genet"},{"key":"94_CR10","doi-asserted-by":"publisher","first-page":"2841","DOI":"10.1210\/jc.2015-1120","volume":"100","author":"S Espiard","year":"2015","unstructured":"Espiard S, Savagner F, Flamant F et al (2015) A novel mutation in THRA gene associated with an atypical phenotype of resistance to thyroid hormone. J Clin Endocrinol Metab 100:2841\u20132848","journal-title":"J Clin Endocrinol Metab"},{"key":"94_CR11","doi-asserted-by":"publisher","first-page":"2945","DOI":"10.1210\/jc.2016-1404","volume":"101","author":"K Demir","year":"2016","unstructured":"Demir K, Van Gucht AL, Buyukinan M et al (2016) Diverse genotypes and phenotypes of three novel thyroid hormone receptor alpha mutations. J Clin Endocrinol Metab 101:2945\u20132954","journal-title":"J Clin Endocrinol Metab"},{"key":"94_CR12","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1089\/thy.2015.0463","volume":"26","author":"AL Gucht Van","year":"2016","unstructured":"Van Gucht AL, Meima ME, Zwaveling-Soonawala N et al (2016) Resistance to thyroid hormone alpha in an 18-month-old girl: clinical, therapeutic, and molecular characteristics. Thyroid 26:338\u2013346","journal-title":"Thyroid"},{"key":"94_CR13","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"94_CR14","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1016\/j.lpm.2015.07.022","volume":"44","author":"V Vlaeminck-Guillem","year":"2015","unstructured":"Vlaeminck-Guillem V, Espiard S, Flamant F, W\u00e9meau JL (2015) TRa receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone. Presse Med 44:1103\u20131112","journal-title":"Presse Med"},{"key":"94_CR15","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1515\/jpem-2015-0286","volume":"29","author":"Y Tang","year":"2016","unstructured":"Tang Y, Yu M, Lian X (2016) Resistance to thyroid hormone \u03b1, revelation of basic study to clinical consequences. J Pediatr Endocrinol Metab 29:511\u2013522","journal-title":"J Pediatr Endocrinol Metab"},{"key":"94_CR16","doi-asserted-by":"publisher","first-page":"3517","DOI":"10.1210\/jc.2017-00840","volume":"102","author":"ALM Gucht Van","year":"2017","unstructured":"Van Gucht ALM, Meima ME, Moran C et al (2017) Anemia in patients with resistance to thyroid hormone \u03b1: a role for thyroid hormone receptor \u03b1 in human erythropoiesis. J Clin Endocrinol Metab 102:3517\u20133525","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s42000-019-00094-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-019-00094-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s42000-019-00094-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T19:11:07Z","timestamp":1581448267000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s42000-019-00094-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,12]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["94"],"URL":"https:\/\/doi.org\/10.1007\/s42000-019-00094-9","relation":{},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"value":"1109-3099","type":"print"},{"value":"2520-8721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,12]]},"assertion":[{"value":"15 August 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 January 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 February 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"None declared.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Informed consent was obtained from the patients\u2019 parents for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"None declared.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Honorarium"}},{"value":"None declared.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Employment or leadership"}}]}}