{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T01:29:04Z","timestamp":1790645344120,"version":"4.1.0"},"reference-count":26,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,3,1]]},"DOI":"10.1210\/jc.2013-3618","type":"journal-article","created":{"date-parts":[[2014,1,14]],"date-time":"2014-01-14T10:06:36Z","timestamp":1389693996000},"page":"E544-E553","source":"Crossref","is-referenced-by-count":74,"title":["The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects"],"prefix":"10.1210","volume":"99","author":[{"given":"M.","family":"Muzza","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Rabbiosi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. C.","family":"Vigone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Zamproni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Cirello","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Maffini","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Maruca","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Schoenmakers","sequence":"additional","affiliation":[{"name":"Metabolic Research Laboratories (N.S.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Beccaria","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (L.B.), A. Manzoni Hospital, 73100 Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Gallo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (F.G.), Perrino Hospital, 72100 Brindisi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.-M.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics (S.-M.P.), Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Beck-Peccoz","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Persani","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health (L.P.), University of Milan, Milan, and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, 20149 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (S.R., M.C.V., I.Z., K.M., G.W.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 21032 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Fugazzola","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health (M.M., V.C., M.A.M., P.B.-P., L.F.), University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113345921500_B1","doi-asserted-by":"crossref","first-page":"S31","DOI":"10.1542\/peds.2009-1975C","article-title":"Prevalence of congenital hypothyroidism\u2014current trends and future directions: Workshop Summary","volume":"125","author":"Olney","year":"2010","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t2019041113345921500_B2","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1111\/j.1365-2265.2009.03568.x","article-title":"A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)","volume":"71","author":"Corbetta","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113345921500_B3","doi-asserted-by":"crossref","first-page":"37265","DOI":"10.1074\/jbc.274.52.37265","article-title":"Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cDNAs","volume":"274","author":"Dupuy","year":"1999","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113345921500_B4","doi-asserted-by":"crossref","first-page":"18269","DOI":"10.1074\/jbc.C600095200","article-title":"Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent","volume":"281","author":"Grasberger","year":"2006","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113345921500_B5","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1242\/jcs.044123","article-title":"Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells","volume":"122","author":"Luxen","year":"2009","journal-title":"J Cell Sci"},{"key":"key\n\t\t\t\t2019041113345921500_B6","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1096\/fj.08-120006","article-title":"Duox maturation factors form cell surface complexes with Duox affecting the specificity of reactive oxygen species generation","volume":"23","author":"Morand","year":"2009","journal-title":"FASEB J"},{"key":"key\n\t\t\t\t2019041113345921500_B7","first-page":"2469","article-title":"Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome","volume":"85","author":"Fugazzola","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1530\/eje.0.1490247","article-title":"Primary congenital hypothyroidism: defects in iodine pathways","volume":"149","author":"De Vijlder","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"key\n\t\t\t\t2019041113345921500_B9","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1089\/10507250360731550","article-title":"Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect","volume":"13","author":"Nascimento","year":"2003","journal-title":"Thyroid"},{"key":"key\n\t\t\t\t2019041113345921500_B10","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1210\/jc.2007-2020","article-title":"Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism","volume":"93","author":"Zamproni","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B11","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ando.2011.03.004","article-title":"DUOXS defects: genotype-phenotype correlations","volume":"72","author":"Fugazzola","year":"2011","journal-title":"Ann Endocrinol (Paris)"},{"key":"key\n\t\t\t\t2019041113345921500_B12","doi-asserted-by":"crossref","first-page":"E1838","DOI":"10.1210\/jc.2011-1573","article-title":"Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients","volume":"96","author":"Narumi","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B13","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1056\/NEJMoa012752","article-title":"Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism","volume":"347","author":"Moreno","year":"2002","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113345921500_B14","doi-asserted-by":"crossref","first-page":"E1335","DOI":"10.1210\/jc.2010-2467","article-title":"Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism","volume":"96","author":"De Marco","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B15","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.9372","article-title":"Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings","volume":"26","author":"Vigone","year":"2005","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113345921500_B16","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1111\/j.1365-2265.2006.02672.x","article-title":"Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene","volume":"65","author":"Pfarr","year":"2006","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113345921500_B17","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1373\/clinchem.2005.058321","article-title":"Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect","volume":"52","author":"Varela","year":"2006","journal-title":"Clin Chem"},{"key":"key\n\t\t\t\t2019041113345921500_B18","doi-asserted-by":"crossref","first-page":"4309","DOI":"10.1210\/jc.2009-0426","article-title":"Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland","volume":"94","author":"Tonacchera","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B19","doi-asserted-by":"crossref","first-page":"4261","DOI":"10.1210\/jc.2008-0856","article-title":"Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program","volume":"93","author":"Maruo","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B20","doi-asserted-by":"crossref","first-page":"E1304","DOI":"10.1002\/humu.21227","article-title":"Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism","volume":"31","author":"Hoste","year":"2010","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113345921500_B21","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1515\/jpem-2012-0082","article-title":"Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene","volume":"26","author":"Yoshizawa-Ogasawara","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B22","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1046\/j.1365-2265.2003.01830.x","article-title":"Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement","volume":"59","author":"Fugazzola","year":"2003","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113345921500_B23","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.1210\/jc.2002-021377","article-title":"Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect","volume":"88","author":"Fugazzola","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113345921500_B24","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1210\/me.2007-0018","article-title":"Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor","volume":"21","author":"Grasberger","year":"2007","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t2019041113345921500_B25","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/ajmg.a.35693","article-title":"Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess","volume":"161A","author":"Kasahara","year":"2013","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t2019041113345921500_B26","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1210\/jc.2012-3273","article-title":"Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: data from the Italian National Registry of infants with congenital hypothyroidism","volume":"98","author":"Olivieri","year":"2013","journal-title":"Clin Endocrinol Metab"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/99\/3\/E544\/11158206\/jcemE544.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T13:24:18Z","timestamp":1565097858000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/99\/3\/E544\/2537415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,1]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2013-3618","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,1]]}}}