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Article

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

The Journal of clinical endocrinology and metabolism - 1 Jul 1993

Targovnik H M, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg B L, Vassart G

Abstract excerpt

Defective or impaired thyroglobulin (Tg) synthesis usually results in congenital goitrous hypothyroidism, virtual absence of Tg in thyroid tissue, and the presence of an elevated concentration of iodoalbumin. The final result of these abnormalities is a decreased rate of T3 and T4 synthesis. We have previously reported two siblings with this syndrome that was attributable to decreased levels of thyroid tissue Tg...

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Source

Identifiers

PMID: 8325944
DOI: 10.1210/jcem.77.1.8325944

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

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