Condition: Thyroid Dyshormonogenesis 6


rs180671269 in DUOX2 gene and Thyroid Dyshormonogenesis 6 PMID 26349762 2015 Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.

PMID 27108200 2016 Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

PMID 30154845 2018 Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.

PMID 18765513 2008 Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.

PMID 27498126 2016 High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.

PMID 21900383 2011 Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

PMID 27821020 2017 DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

PMID 28541007 2017 Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.

PMID 25248169 2014 High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.

PMID 26709262 2016 DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

PMID 23457309 2013 Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.

PMID 12110737 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

PMID 16134168 2005 Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

PMID 26742565 2016 Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.

PMID 27557340 2016 The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.

PMID 16322276 2006 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.

PMID 20187165 2010 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.

PMID 17121535 2006 Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

PMID 24423310 2014 The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.