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Article

A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.

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

Pohlenz J, Manders L, Sadow P M, Kansal P C, Refetoff S, Weiss R E

Abstract excerpt

Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone (TH), is linked to mutations in the thyroid hormone receptor (TR) beta gene. We report a new family with a heretofore unreported mutation, P247L. The proposita, a 31-year-old female, presented with goiter and palpitations. RTH was suspected because of elevated serum free thyroxine (FT4) level with a...

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Source

Identifiers

PMID: 10646658
DOI: 10.1089/thy.1999.9.1195

Genes

TRH

Provenance

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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