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A clinician’s guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms

15 Sept 2017

Abstract excerpt

There are two genes that express the major thyroid hormone receptor isoforms. Mutations in both these genes have given rise to Resistance to Thyroid Hormone (RTH) syndromes (RTHβ, RTHα) that can have variable phenotypes for mutations of the same receptor isoform as well as between the two receptor isoforms. In general, the relative tissue-specific distribution of TRβ and TRα determine RTH in different tissues for...

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PMID: 28932413
DOI: 10.1186/s40842-017-0046-z

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