{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T22:45:02Z","timestamp":1772577902167,"version":"3.50.1"},"reference-count":17,"publisher":"Japan Endocrine Society","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2013]]},"DOI":"10.1507\/endocrj.ej13-0009","type":"journal-article","created":{"date-parts":[[2013,1,30]],"date-time":"2013-01-30T22:38:09Z","timestamp":1359585489000},"page":"245-249","source":"Crossref","is-referenced-by-count":30,"title":["A novel mutation of &lt;i&gt;IGSF1&lt;\/i&gt; in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]"],"prefix":"10.1507","volume":"60","author":[{"given":"Toshihiro","family":"Tajima","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsura","family":"Ishizu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80276-1"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. vanTijn DA, De Vijlder JJM, Verkerk PH, VerbeetenJr B, Vulsma T (2005) Neonatal detection of congenital hypothyroidism of central origin. <i>J Clin Endocrinol Metab<\/i> 90:3350-3359.","DOI":"10.1210\/jc.2004-2444"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.17.65"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Miyai K, Azukizawa M, Kumahara Y (1971) Familial isolated thyrotropin deficiency with cretinism. <i>N Engl J Med<\/i> 285:1043-1048.","DOI":"10.1056\/NEJM197111042851902"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K (1989) Thyroid stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the &beta;-subunit. <i>EMBO J<\/i> 8:2291-2296.","DOI":"10.1002\/j.1460-2075.1989.tb08355.x"},{"key":"6","unstructured":"6. Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid- stimulating hormone beta-subunit gene. <i>Am J Hum Genet<\/i> 46:988-993."},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.5.1762"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.5.1561"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0808557"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2453"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5156"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.14.4882-4891.2003"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M807527200"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181b1bcbd"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3454"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Ramos HE, Labedan I, Carr&eacute; A, Castanet M, Guemas I, et al. (2010) New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening. <i>Thyroid<\/i> 20:639-645.","DOI":"10.1089\/thy.2009.0462"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Ikekubo K, Hino M, Saiki Y, Son C, Iwakura T, et al. (2005) Immeasurably low and non-TRH-stimulatable TSH associated with normal I-123 uptake in two goitrous euthyroid patients: possible existence of other thyroid-hormone regulated thyroid stimulators other than TSH. <i>Endocr J<\/i> 52:61-68.","DOI":"10.1507\/endocrj.52.61"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/60\/2\/60_EJ13-0009\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T06:38:43Z","timestamp":1618295923000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/60\/2\/60_EJ13-0009\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej13-0009","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}