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, cilt.97, ss.1328-1336, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 97 Konu: 4
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1210/jc.2011-2642
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.1328-1336

Özet

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.