PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

J Med Genet. 2004 May;41(5):373-80. doi: 10.1136/jmg.2003.015412.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Cloning, Molecular
  • DNA Mutational Analysis
  • DNA Repeat Expansion
  • GC Rich Sequence
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Humans
  • Hypoventilation / congenital
  • Hypoventilation / diagnosis
  • Hypoventilation / genetics*
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation*
  • Peptides / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Sleep Disorders, Intrinsic / congenital
  • Sleep Disorders, Intrinsic / diagnosis
  • Sleep Disorders, Intrinsic / genetics*
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Peptides
  • Transcription Factors
  • polyalanine

Associated data

  • OMIM/209880

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