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Clinical Phenotype of a New Type of Thyroid Hormone Resistance Caused by a Mutation of the TRα1 Receptor: Consequences of LT4 Treatment

1 May 2013

Abstract excerpt

CONTEXT: Recently the first patients with inactivating mutations in T₃ receptor (TR)-α1 have been identified. These patients have low free T₄, low T₄, high T₃, low rT₃, and normal TSH serum levels, in combination with growth retardation, delayed bone development, and constipation. OBJECTIVE: The aim of the current study was to report the effects of levothyroxine (LT4) treatment on the clinical phenotype of 2...

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PMID: 23633213
DOI: 10.1210/jc.2013-1050

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