Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Consanguinity
  • DNA Mutational Analysis
  • Endothelin-3 / genetics
  • Genetic Heterogeneity*
  • Genotype
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / diagnosis
  • Hirschsprung Disease / genetics
  • Humans
  • Male
  • Models, Biological
  • Molecular Sequence Data
  • Pedigree
  • Phenotype*
  • SOXE Transcription Factors / genetics
  • Waardenburg Syndrome / classification
  • Waardenburg Syndrome / complications
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / genetics*

Substances

  • Endothelin-3
  • SOX10 protein, human
  • SOXE Transcription Factors