Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV

Am J Med Genet A. 2010 Jul;152A(7):1841-3. doi: 10.1002/ajmg.a.33123.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Consensus Sequence / genetics*
  • Endothelin-3 / chemistry
  • Endothelin-3 / genetics*
  • Enzyme Activation
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pregnancy
  • Waardenburg Syndrome / genetics*

Substances

  • Endothelin-3