Detection of a mutation in the thyroid hormone receptor beta gene as a cause of pathological laboratory test results in an euthyreotic toddler

Klin Padiatr. 2010 Dec;222(7):462-3. doi: 10.1055/s-0030-1265180. Epub 2010 Nov 25.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 3 / genetics
  • Codon / genetics
  • DNA Mutational Analysis*
  • Exons / genetics
  • Female
  • Follow-Up Studies
  • Genes, Dominant / genetics
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Infant, Newborn
  • Thyroid Function Tests
  • Thyroid Hormone Receptors beta / genetics*
  • Thyrotropin / blood
  • Thyroxine / blood
  • Triiodothyronine / blood

Substances

  • Codon
  • Thyroid Hormone Receptors beta
  • Triiodothyronine
  • Thyrotropin
  • Thyroxine