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Article

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

The Journal of clinical endocrinology and metabolism - 1 Aug 2016

Demir Korcan, van Gucht Anja L M, Büyükinan Muammer, Çatlı Gönül, Ayhan Yavuz, Baş Veysel Nijat, Dündar Bumin, Özkan Behzat, Meima Marcel E, Visser W Edward, Peeters Robin P, Visser Theo J

Abstract excerpt

CONTEXT: Recently several patients with resistance to thyroid hormone (RTH)-α due to T3 receptor-α (TRα) mutations were identified. The phenotype of these patients consists of varying degrees of growth impairment, delayed bone, mental and motor development, constipation, macrocephaly, and near-normal thyroid function tests. OBJECTIVE: The objective of the study was to describe the clinical phenotype of three new...

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Identifiers

PMID: 27144938
DOI: 10.1210/jc.2016-1404

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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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