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Article

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

Clinical endocrinology - 1 Sept 2007

Caputo Mariela, Rivolta Carina M, Esperante Sebastían A, Gruñeiro-Papendieck Laura, Chiesa Ana, Pellizas Claudia G, González-Sarmiento Rogelio, Targovnik Héctor M

Abstract excerpt

CONTEXT: Thyroid dyshormonogenesis is associated with mutations in the thyroglobulin (TG) gene and characterized by normal organification of iodide and low serum TG. These mutations give rise to congenital goitrous hypothyroidism, transmitted in an autosomal recessive mode. OBJECTIVES: The aim of this study was to identify new mutations in the TG gene in an attempt to increase the understanding of the molecular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17532758
DOI: 10.1111/j.1365-2265.2007.02889.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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