Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO

Clin Genet. 2021 Apr;99(4):604-606. doi: 10.1111/cge.13902. Epub 2020 Dec 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autoantigens / genetics*
  • Congenital Hypothyroidism / genetics*
  • Ear, Inner / pathology
  • Exome Sequencing
  • Female
  • Genetic Association Studies
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Iodide Peroxidase / deficiency*
  • Iodide Peroxidase / genetics
  • Iron-Binding Proteins / genetics*
  • Male
  • Mutation, Missense*
  • Point Mutation*

Substances

  • Autoantigens
  • Iron-Binding Proteins
  • TPO protein, human
  • Iodide Peroxidase

Supplementary concepts

  • Thyroid Dyshormonogenesis 2A