Associated Papers
Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
Su Y et al.
International Journal of Neonatal Screening, 2025
41133710 (PubMed )
Supplement: IJNS-11-00098-s001.zip › IJNS-3862892-supplementary.pdf
Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Huang X et al.
Biomedical Reports, 2025
Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.
Kara C et al.
European Thyroid Journal, 2023
36913313 (PubMed )
Supplement: supplementary_table_1.pdf
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
31044655 (PubMed )
Supplement: Supp_Table3.pdf
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
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