Associated Papers
Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.
Hermanson JN et al.
Biorxiv : the Preprint Server for Biology, 2025
41394573 (PubMed )
Supplement: media-2.xlsx › Sheet1
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Yang R et al.
Frontiers in Genetics, 2021
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F et al.
European Journal of Endocrinology, 2018
29650690 (PubMed )
Supplement: eje-178-623-t001.pdf
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.
Hu X et al.
Molecular and Cellular Endocrinology, 2016
Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
Citterio CE et al.
Molecular and Cellular Endocrinology, 2015
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