Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of
approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype …

Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated
incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from …

Human thyroglobulin (TG) gene is a single copy gene, 270 kb long, that maps on
chromosome 8q24. 2–8q24. 3 and contains an 8.5-kb coding sequence divided into 48 …

Context: Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with
goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins …

Context Thyroid dyshormonogenesis is associated with mutations in the thyroglobulin (TG)
gene and characterized by normal organification of iodide and low serum TG. These …

The thyroglobulin (TG) gene is organized in 48 exons, spanning over 270kb on human
chromosome 8q24. Up to now, 62 inactivating mutations in the TG gene have been …

Background Thyroglobulin (TG) deficiency is an autosomal‐recessive disorder that results in
thyroid dyshormonogenesis. A number of distinct mutations have been identified as causing …

Context: Thyroglobulin (TG) is a large glycoprotein and functions as a matrix for thyroid
hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) …

Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the
biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in …

Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-
function relationship. In this study, we have performed molecular studies in a patient with …