Associated Papers
The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.
Du J et al.
Annals of Medicine, 2025
JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China.
Li M et al.
International Journal of General Medicine, 2024
Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene.
Jung SY et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1
DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom.
Peters C et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
Zheng X et al.
Yonsei Medical Journal, 2017
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
Zheng X et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
Liu S et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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