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, sa.4, ss.1328-1336, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 97 Sayı: 4
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1210/jc.2011-2642
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1328-1336
  • İstanbul Üniversitesi Adresli: Evet

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.