Article

Clinical, Biochemical, and Molecular Genetic Characterization of Two Patients with Congenital Hypothyroidism Harboring Novel Compound Heterozygous Variants in the Thyroglobulin Gene

2026-03-18

Abstract excerpt

<title>Abstract</title> <p> <bold>Context</bold> Thyroglobulin (TG) is the most abundant glycoprotein secreted by thyrocytes into the follicular lumen, serving as the essential substrate for thyroid hormone biosynthesis. The clinical spectrum of TG defects is highly heterogeneous, ranging from euthyroid states to mild or severe permanent hypothyroidism. The aim of this study was to identify and characterize nov...

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Literature Corpus work: 237cfbef-599c-56ab-9092-a0d73da11b23
DOI: 10.21203/rs.3.rs-9117442/v1

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