[Resistance to thyroid hormone].

Abstract excerpt

Resistance to thyroid hormone (RTH), Refetoff's syndrome, is a syndrome of reduced responsiveness of target tissue to thyroid hormone (TH). Inheritance is usually autosomal dominant except in one family, being recessive. Since a point mutation was first discovered in the thyroid hormone receptor (TR) beta gene of a subject with RTH, approximately 93 unrelated families with RTH have been found to have mutations on...

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