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Rastogi MV, LaFranchi SH (2010) Congenital hypothyroidism. <i>Orphanet J Rare Dis<\/i> 5:17.","DOI":"10.1186\/1750-1172-5-17"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Stanbury JB, Hedge AN (1950) A study of a family of goitrous cretins. <i>J Clin Endocrinol Metab<\/i> 10:1471-1484.","DOI":"10.1210\/jcem-10-11-1471"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, <i>et al<\/i>. (1992) Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. <i>J Clin Invest<\/i> 90:1200-1204.","DOI":"10.1172\/JCI115981"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Ris-Stalpers C, Bikker H (2010) Genetics and phenomics of hypothyroidism and goiter due to TPO mutations. <i>Mol Cell Endocrinol<\/i> 322:38-43.","DOI":"10.1016\/j.mce.2010.02.008"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. 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Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, <i>et al<\/i>. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. <i>J Clin Endocrinol Metab<\/i> 91:3100-3104.","DOI":"10.1210\/jc.2005-2702"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Bikker H, Baas F, De Vijlder JJ (1997) Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. <i>J Clin Endocrinol Metab<\/i> 82:649-653.","DOI":"10.1210\/jc.82.2.649"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Kotani T, Umeki K, Yamamoto I, Maesaka H, Tachibana K, <i>et al<\/i>. (1999) A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. <i>J Endocrinol<\/i> 160:267-273.","DOI":"10.1677\/joe.0.1600267"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Umeki K, Kotani T, Kawano J, Suganuma T, Yamamoto I, <i>et al<\/i>. (2002) Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. <i>Eur J Endocrinol<\/i> 146:491-498.","DOI":"10.1530\/eje.0.1460491"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Simm D, Pfarr N, Pohlenz J, Prawitt D, Dorr HG (2009) Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children. <i>Acta Paediatr<\/i> 98:1057-1061.","DOI":"10.1111\/j.1651-2227.2009.01236.x"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Baryshev M, Sargsyan E, Wallin G, Lejnieks A, Furudate S, <i>et al<\/i>. (2004) Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. <i>J Mol Endocrinol<\/i> 32:903-920.","DOI":"10.1677\/jme.0.0320903"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Matsuda A, Kosugi S (1997) A homozygous missense mutation of the sodium\/iodide symporter gene causing iodide transport defect. <i>J Clin Endocrinol Metab<\/i> 82:3966-3971.","DOI":"10.1210\/jc.82.12.3966"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Kasahara T, Narumi S, Okasora K, Takaya R, Tamai H, <i>et al<\/i>. 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