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Article

Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.

The Journal of clinical endocrinology and metabolism - 1 Nov 1999

Pohlenz J, Weiss R E, Macchia P E, Pannain S, Lau I T, Ho H, Refetoff S

Abstract excerpt

Resistance to thyroid hormone (RTH) is a syndrome of variable tissue hyposensitivity to TH. In 191 families, the RTH phenotype has been linked to mutations located in the ligand-binding or hinge domains of the TH receptor (TR) beta gene. The defective TRbeta molecules interfere with the function of the normal TRs to produce dominantly inherited RTH. Of the 65 families with RTH studied in our laboratory, 59 had...

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Identifiers

PMID: 10566629
DOI: 10.1210/jcem.84.11.6080

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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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