Condition: Familial thyroid dyshormonogenesis


rs191759494 in DUOX2 gene and Familial thyroid dyshormonogenesis PMID 21900383 2011 Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

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

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

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

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

PMID 21565790 2011 Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.

PMID 28666341 2017 DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

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

PMID 20972728 2010 Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.

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

PMID 26990548 2016 NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

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 30240412 2018 High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.