Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone

J Clin Endocrinol Metab. 1967 Feb;27(2):279-94. doi: 10.1210/jcem-27-2-279.
No abstract available

MeSH terms

  • Child
  • Child, Preschool
  • Chondrodysplasia Punctata / metabolism*
  • Deafness / genetics*
  • Female
  • Goiter / genetics*
  • Heart Rate
  • Humans
  • Infant
  • Infant, Newborn
  • Iodine / metabolism
  • Iodine Radioisotopes
  • Kinetics
  • Male
  • Reflex, Stretch
  • Thyroid Function Tests*
  • Thyroid Gland / metabolism
  • Thyroid Hormones / pharmacology*
  • Thyroxine-Binding Proteins

Substances

  • Iodine Radioisotopes
  • Thyroid Hormones
  • Thyroxine-Binding Proteins
  • Iodine