Thyroid Hormone Receptor Beta Gene Mutation (P453A) in a Family Producing Resistance to Thyroid Hormone


Bayraktaroglu T., Noel J., Alagol F., Colak N., Mulkaddes N. M., Refetoff S.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, vol.117, no.1, pp.34-37, 2009 (SCI-Expanded, Scopus)

Abstract

Background: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by decreased responsiveness of target tissues to thyroid hormone. Two members of a Turkish family, a mother and son, had thyroid function tests suggestive of resistance to thyroid hormone (RTH).