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Article

Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.

Thyroid : official journal of the American Thyroid Association - 1 Jun 1999

Nogueira C R, Nguyen L Q, Coelho-Neto J R, Arseven O K, Jameson J L, Kopp P, Medeiros-Neto G A

Abstract excerpt

Sporadic congenital hypothyroidism is most commonly caused by developmental abnormalities of the thyroid gland. More rarely, it is due to defects in gene products involved in the regulation of the hypothalamic-pituitary-thyroid axis or thyroid hormone synthesis. Loss of function mutations in the thyrotropin (TSH) receptor have been shown to result in resistance to biologically active TSH. In complete resistance...

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Identifiers

PMID: 10411113
DOI: 10.1089/thy.1999.9.523

Provenance

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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