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, cilt.117, sa.1, ss.34-37, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 117 Konu: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1055/s-2008-1076712
  • Dergi Adı: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
  • Sayfa Sayıları: ss.34-37

Özet

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).