Homozygous Thyroid Hormone Receptor beta-Gene Mutations in Resistance to Thyroid Hormone: Three New Cases and Review of the Literature

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Copy For Citation

Ferrara A. M., Onigata K., Ercan O., Woodhead H., Weiss R. E., Refetoff S.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.97, no.4, pp.1328-1336, 2012 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 97 Issue: 4
• Publication Date: 2012
• Doi Number: 10.1210/jc.2011-2642
• Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.1328-1336
• Istanbul University Affiliated: Yes

Abstract

Context: The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormonereceptor beta(THRB) gene mutations. Homozygous mutations in the THRB gene are a rare event.