Article
The syndromes of reduced sensitivity to thyroid hormone.
Biochimica et biophysica acta - 1 Jul 2013
Dumitrescu Alexandra M, Refetoff Samuel
Abstract excerpt
BACKGROUND: Six known steps are required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps, human mutations and distinct phenotypes have been identified. SCOPE OF REVIEW: The clinical, laboratory, genetic and molecular characteristics of these three defects of TH action are the subject of this review. The first defect, recognized 45years ago, produces...
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