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Article

Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2008

Pardo Viviane, Rubio Ileana G S, Knobel Meyer, Aguiar-Oliveira Manoel H, Santos Marcos M, Gomes Simone A, Oliveira Carla R P, Targovnik Hector M, Medeiros-Neto Geraldo

Abstract excerpt

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 the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. SUMMARY: We found a novel compound heterozygous constellation (IVS30 +...

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PMID: 18631008
DOI: 10.1089/thy.2007.0321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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