Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction

JAMA Neurol. 2016 Feb;73(2):237-8. doi: 10.1001/jamaneurol.2015.2976.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Immune System Diseases / genetics*
  • Infant, Newborn
  • Mitochondria / genetics*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / immunology
  • Pedigree
  • Phenotype
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics*
  • Transcription Factors / immunology

Substances

  • Nuclear Proteins
  • Thyroid Nuclear Factor 1
  • Transcription Factors