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Article

A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Nov 2006

Maraninchi M, Bourcigaux N, Dace A, El-Yazidi C, Malezet-Desmoulins C, Krempf M, Torresani J, Margotat A

Abstract excerpt

Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large...

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Identifiers

PMID: 17177139
DOI: 10.1055/s-2006-956169

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