{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:54:54Z","timestamp":1783486494833,"version":"3.55.0"},"reference-count":5,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:p>\n                    We report a 10-month-old girl with familial congenital hypothyroidism harboring a novel heterozygous pathogenic variant in the paired DNA-binding domain of\n                    <jats:italic toggle=\"yes\">PAX8<\/jats:italic>\n                    (NM_003466:c.110T&gt;C:p.Leu37Pro). Genotype\u2013phenotype correlation revealed complete penetrance of this\n                    <jats:italic toggle=\"yes\">PAX8<\/jats:italic>\n                    defect in this family, in which the affected father and half-brother carry the same mutation. This deleterious variant has not been reported in any of the available databases [MAFgnomAD\u2009=\u20090, dbSNP (\u2212)], and the amino acid leucine at position 37 is highly conserved across species. Establishing the molecular diagnosis expands our knowledge on the cause of thyroid dysgenesis and provides a guide for counseling and early treatment.\n                  <\/jats:p>","DOI":"10.1089\/thy.2022.0117","type":"journal-article","created":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T08:08:51Z","timestamp":1653466131000},"page":"1000-1002","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Pathogenic Variant in\n                    <i>PAX8<\/i>\n                    Leads to Familial Congenital Hypothyroidism"],"prefix":"10.1177","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6020-3200","authenticated-orcid":false,"given":"Monica Malheiros","family":"Fran\u00e7a","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Reeve","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Canterbury District Health Board, Christchurch, New Zealand."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2743-770X","authenticated-orcid":false,"given":"Alexandra M.","family":"Dumitrescu","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Committee on Molecular Metabolism and Nutrition, University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"de Bock","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Canterbury District Health Board, Christchurch, New Zealand."},{"name":"Department of Paediatrics, University of Otago, Christchurch, New Zealand."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0164-8231","authenticated-orcid":false,"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Pediatrics, University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Committees on Genetics, University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13627"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-83"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000086478.87623.69"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/me.2004-0426"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2022.0117","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2022.0117","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2022.0117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:09:23Z","timestamp":1777586963000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2022.0117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8]]},"references-count":5,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1089\/thy.2022.0117"],"URL":"https:\/\/doi.org\/10.1089\/thy.2022.0117","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8]]}}}