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.; Refetoff, S.

doi:10.1055/s-2008-1076712

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)

Publication Type: Article / Article
Volume: 117 Issue: 1
Publication Date: 2009
Doi Number: 10.1055/s-2008-1076712
Journal Name: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.34-37
Istanbul University Affiliated: Yes

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).