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Article

A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.

The Journal of clinical endocrinology and metabolism - 1 May 1994

Weiss R E, Chyna B, Duell P B, Hayashi Y, Sunthornthepvarakul T, Refetoff S

Abstract excerpt

Resistance to thyroid hormone (RTH) is a condition of impaired end-organ responsiveness to thyroid hormone characterized by goiter and elevated thyroid hormone levels with an inappropriately normal TSH. RTH has been associated with mutations in the thyroid hormone receptor-beta (TR beta) gene. We report studies carried out in 21 members of a family (F119), 12 of whom exhibited the RTH phenotype. A point mutation...

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Identifiers

PMID: 8175986
DOI: 10.1210/jcem.78.5.8175986

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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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