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Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.

Molecular and cellular endocrinology - 15 Sept 2018

Siffo Sofia, Adrover Ezequiela, Citterio Cintia E, Miras Mirta B, Balbi Viviana A, Chiesa Ana, Weill Jacques, Sobrero Gabriela, González Verónica G, Papendieck Patricia, Martinez Elena Bueno, Gonzalez-Sarmiento Rogelio, Rivolta Carina M, Targovnik Héctor M

Abstract excerpt

Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hypothyroidism. Up to now, one hundred seventeen deleterious mutations in the TG gene have been identified and characterized. The purpose of the present study was to identify and characterize new mutations in the TG...

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PMID: 29275168
DOI: 10.1016/j.mce.2017.12.009

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