A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

Am J Med Genet A. 2005 Nov 15;139(1):50-1. doi: 10.1002/ajmg.a.30975.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • Ganglia / abnormalities*
  • Hirschsprung Disease / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Hypoventilation / genetics*
  • Hypoventilation / pathology
  • Infant
  • Infant, Newborn
  • Intestine, Large / abnormalities
  • Intestine, Large / innervation*
  • Intestine, Small / abnormalities
  • Intestine, Small / innervation*
  • Male
  • Molecular Sequence Data
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors