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2. Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6. Citterio CE; Morales CM; Bouhours-Nouet N; Machiavelli GA; Bueno E; Gatelais F; Coutant R; González-Sarmiento R; Rivolta CM; Targovnik HM Mol Cell Endocrinol; 2015 Mar; 404():102-12. PubMed ID: 25633667 [TBL] [Abstract][Full Text] [Related]
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8. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Nascimento AC; Guedes DR; Santos CS; Knobel M; Rubio IG; Medeiros-Neto G Thyroid; 2003 Dec; 13(12):1145-51. PubMed ID: 14751036 [TBL] [Abstract][Full Text] [Related]
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10. 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. Hoste C; Rigutto S; Van Vliet G; Miot F; De Deken X Hum Mutat; 2010 Apr; 31(4):E1304-19. PubMed ID: 20187165 [TBL] [Abstract][Full Text] [Related]
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13. Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. Fu C; Luo S; Zhang S; Wang J; Zheng H; Yang Q; Xie B; Hu X; Fan X; Luo J; Chen R; Su J; Shen Y; Gu X; Chen S Clin Chim Acta; 2016 Jul; 458():30-4. PubMed ID: 27108200 [TBL] [Abstract][Full Text] [Related]
14. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. Maruo Y; Takahashi H; Soeda I; Nishikura N; Matsui K; Ota Y; Mimura Y; Mori A; Sato H; Takeuchi Y J Clin Endocrinol Metab; 2008 Nov; 93(11):4261-7. PubMed ID: 18765513 [TBL] [Abstract][Full Text] [Related]
15. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. Pohlenz J; Rosenthal IM; Weiss RE; Jhiang SM; Burant C; Refetoff S J Clin Invest; 1998 Mar; 101(5):1028-35. PubMed ID: 9486973 [TBL] [Abstract][Full Text] [Related]
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17. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes. Wang F; Lu K; Yang Z; Zhang S; Lu W; Zhang L; Liu S; Yan S Clin Endocrinol (Oxf); 2014 Sep; 81(3):452-7. PubMed ID: 24735383 [TBL] [Abstract][Full Text] [Related]
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19. A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. Ohye H; Fukata S; Hishinuma A; Kudo T; Nishihara E; Ito M; Kubota S; Amino N; Ieiri T; Kuma K; Miyauchi A Thyroid; 2008 May; 18(5):561-6. PubMed ID: 18426362 [TBL] [Abstract][Full Text] [Related]
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