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Mutations of the thyroglobulin gene and its relevance to thyroid disorders.

Current opinion in endocrinology, diabetes, and obesity - 1 Oct 2009

Rubio Ileana G S, Medeiros-Neto Geraldo

Abstract excerpt

PURPOSE OF REVIEW: To perform an update review on thyroglobulin gene mutations associated with congenital hypothyroidism, thyroid cancer, and autoimmunity. RECENT FINDINGS: Forty-two thyroglobulin mutations have been identified in dyshormonogenetic congenital hypothyroidism. Clinical and laboratory criteria defining defective thyroglobulin synthesis are mostly related to thyroglobulin mutations, generally caused...

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PMID: 19633549
DOI: 10.1097/MED.0b013e32832ff218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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