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Article

Phenotypic variability in patients with generalised resistance to thyroid hormone.

Journal of medical genetics - 1 May 1995

Pohlenz J, Wirth S, Winterpacht A, Wemme H, Zabel B, Schönberger W

Abstract excerpt

Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for...

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Identifiers

PMID: 7616549
DOI: 10.1136/jmg.32.5.393
PMCID: PMC1050437

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic variability in patients with generalised resistance to thyroid hormone.PMID 7616549Read ↗

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A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.Semantic proximity Read ↗

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