Article
Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
The Journal of clinical endocrinology and metabolism - 1 Oct 2000
Reutrakul S, Sadow P M, Pannain S, Pohlenz J, Carvalho G A, Macchia P E, Weiss R E, Refetoff S
Abstract excerpt
The syndrome of resistance to thyroid hormone (RTH) is characterized by decreased tissue responsiveness to thyroid hormones. Inheritance is usually autosomal dominant due to mutations in the ligand-binding domain or adjacent hinge region of the thyroid hormone receptor beta (TRbeta) gene. Six of 65 families with the RTH phenotype studied in our laboratory had normal TRbeta1 and TRbeta2 gene sequences. Their...
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