Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease

Am J Med Genet A. 2008 Jun 1;146A(11):1486-9. doi: 10.1002/ajmg.a.32300.
No abstract available

MeSH terms

  • Cohort Studies
  • Female
  • Frameshift Mutation
  • Gene Frequency
  • Genotype
  • Germ-Line Mutation
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Hypoventilation / complications
  • Hypoventilation / genetics*
  • Male
  • Polymorphism, Genetic
  • Proto-Oncogene Proteins c-ret / genetics*
  • Sequence Analysis, DNA
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors
  • Proto-Oncogene Proteins c-ret
  • RET protein, human