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Article

New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.

The Journal of clinical endocrinology and metabolism - 1 Jul 2010

Peteiro-Gonzalez D, Lee J, Rodriguez-Fontan J, Castro-Piedras I, Cameselle-Teijeiro J, Beiras A, Bravo S B, Alvarez C V, Hardy D M, Targovnik H M, Arvan P, Lado-Abeal J

Abstract excerpt

CONTEXT: Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endoplasmic reticulum storage disease. OBJECTIVE: To reveal new aspects of thyroglobulin pathophysiology through clinical,...

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Identifiers

PMID: 20410234
DOI: 10.1210/jc.2009-2109
PMCID: PMC2928901

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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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