Article
Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
Thyroid : official journal of the American Thyroid Association - 1 Feb 1997
Weiss R E, Tunca H, Knapple W L, Faas F H, Refetoff S
Abstract excerpt
A new family with resistance to thyroid hormone (RTH) harboring a mutation in the thyroid hormone receptor (TR) beta gene (R320C) is reported. The phenotype of affected members is compared to that of affected members of an unrelated family with an identical mutation in the TR beta gene that occurred independently. In one of the two families higher concentrations of free T4 were required to maintain a normal TSH...
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