A novel familial variation of the thyroid hormone receptor beta gene (I276N) associated with resistance to thyroid hormone

Thyroid. 2012 Apr;22(4):440-1. doi: 10.1089/thy.2011.0443. Epub 2012 Feb 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution
  • Antibodies, Blocking / immunology
  • Child, Preschool
  • Exons / genetics
  • Female
  • Humans
  • Iodide Peroxidase / antagonists & inhibitors
  • Iodide Peroxidase / immunology
  • Mutation / genetics
  • Mutation / physiology
  • Mutation, Missense
  • Thyroglobulin / antagonists & inhibitors
  • Thyroglobulin / immunology
  • Thyroid Function Tests
  • Thyroid Hormone Receptors beta / genetics*
  • Thyroid Hormone Resistance Syndrome / etiology*
  • Thyroid Hormone Resistance Syndrome / genetics*
  • Thyroid Hormones / physiology*
  • Thyrotropin / blood

Substances

  • Antibodies, Blocking
  • Thyroid Hormone Receptors beta
  • Thyroid Hormones
  • Thyrotropin
  • Thyroglobulin
  • Iodide Peroxidase