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

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) identifier identifier identifier


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.