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Article

Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant.

The Journal of clinical endocrinology and metabolism - 1 Nov 2001

Phillips S A, Rotman-Pikielny P, Lazar J, Ando S, Hauser P, Skarulis M C, Brucker-Davis F, Yen P M

Abstract excerpt

Resistance to thyroid hormone (RTH) is a syndrome in which patients have elevated thyroid hormone (TH) levels and decreased sensitivity to its action. We describe a child with extreme RTH and a severe phenotype. A 22-month-old female presented to the NIH with goiter, growth retardation, short sta...

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Source

Identifiers

PMID: 11701667
DOI: 10.1210/jcem.86.11.8051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-11701667-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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