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
Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
Ahn J et al.
International Journal of Molecular Sciences, 2025
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
Siffo S et al.
Endocrine, 2023
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S3
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Citterio CE et al.
Molecular and Cellular Endocrinology, 2013
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