Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS

Am J Respir Crit Care Med. 2005 Jan 1;171(1):88. doi: 10.1164/ajrccm.171.1.950.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Adult
  • Age of Onset
  • Autonomic Nervous System Diseases / diagnosis
  • Autonomic Nervous System Diseases / genetics
  • Child, Preschool
  • Female
  • Genetic Markers
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Mutation*
  • Sleep Apnea, Central / congenital
  • Sleep Apnea, Central / genetics*
  • Transcription Factors / genetics*

Substances

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