Associated Papers
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
Uehara E et al.
Thyroid : Official Journal of the American Thyroid Association, 2024
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 2021
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.
Zheng Z et al.
Annals of Translational Medicine, 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
A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.
Sun J et al.
Molecular Medicine Reports, 2018
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.
Maruo Y et al.
European Journal of Endocrinology, 2016
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
Park KJ et al.
Annals of Laboratory Medicine, 2016
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.
Muzza M et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.
Narumi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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