Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease

Am J Respir Crit Care Med. 2004 Jul 1;170(1):16-21. doi: 10.1164/rccm.200402-245PP. Epub 2004 Apr 22.
No abstract available

Publication types

  • Review

MeSH terms

  • Autonomic Nervous System / physiopathology
  • Child
  • Genetic Markers
  • Genetic Testing
  • Homeodomain Proteins / genetics
  • Humans
  • Mutation
  • Sleep Apnea, Central / diagnosis
  • Sleep Apnea, Central / genetics*
  • Sleep Apnea, Central / physiopathology
  • Transcription Factors / genetics

Substances

  • Genetic Markers
  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors