Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone.

Abstract excerpt

Resistance to thyroid hormone (RTH) is an autosomal dominant disorder that is caused by mutations in the thyroid hormone receptor beta (TR beta) gene. The thyroid hormone receptor is a nuclear receptor that acts by binding to DNA to stimulate or repress gene transcription. Mutations that cause RTH are clustered within two regions of the hormone binding domain of the receptor. These mutations reduce thyroid...

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