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Article

Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics.

Thyroid : official journal of the American Thyroid Association - 1 Mar 2016

van Gucht Anja L M, Meima Marcel E, Zwaveling-Soonawala Nitash, Visser W Edward, Fliers Eric, Wennink Johanna M B, Henny Civile, Visser Theo J, Peeters Robin P, van Trotsenburg A S Paul

Abstract excerpt

BACKGROUND: Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due to inactivating mutations in the thyroid hormone receptor alpha (TRα) were identified. These patients are characterized by growth retardation, variable motor and cognitive defects, macrocephaly, and abnormal thyroid function tests. The objective was to characterize a young girl (18 months old) with a mutation in both TRα1...

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PMID: 26782358
DOI: 10.1089/thy.2015.0463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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