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Article

A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.

Minerva pediatrica - 1 Aug 2010

Cömert S, Akin Y, Vitrinel A, Telatar B, Ağikuru T, Gözü H, Bircan R, Turan S

Abstract excerpt

Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced tissue responsiveness to thyroid hormones. The main defects are due to mutations in thyroid hormone receptor beta (TRbeta). A male, term neonate was admitted because of indirect hyperbilirubinemia and polycythemia. Physical examination revealed ophtalmopathy. High serum T₄ with unsupressed thyroid stimulating hormone (TSH)...

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PMID: 20940675

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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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