A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

J Med Genet. 2001 Mar;38(3):205-9. doi: 10.1136/jmg.38.3.205.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Endothelin-3 / genetics*
  • Family Health
  • Fatal Outcome
  • Female
  • Heterozygote
  • High Mobility Group Proteins / genetics
  • Hirschsprung Disease / genetics*
  • Hirschsprung Disease / pathology
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation
  • Neural Crest / metabolism
  • Neural Crest / pathology
  • Pedigree
  • Phenotype
  • Receptor, Endothelin B
  • Receptors, Endothelin / genetics
  • SOXE Transcription Factors
  • Transcription Factors
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology

Substances

  • DNA-Binding Proteins
  • Endothelin-3
  • High Mobility Group Proteins
  • Receptor, Endothelin B
  • Receptors, Endothelin
  • SOX10 protein, human
  • SOXE Transcription Factors
  • Transcription Factors
  • DNA