Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome

J Med Genet. 2001 Sep;38(9):E30. doi: 10.1136/jmg.38.9.e30.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Sequence
  • Asian Continental Ancestry Group / genetics
  • Base Sequence
  • China
  • DNA Mutational Analysis
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • England
  • European Continental Ancestry Group / genetics
  • Exons / genetics
  • Female
  • Genes, Dominant / genetics*
  • Genotype
  • High Mobility Group Proteins / chemistry
  • High Mobility Group Proteins / genetics*
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / genetics*
  • Hirschsprung Disease / physiopathology
  • Humans
  • Infant, Newborn
  • Introns / genetics
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Phenotype
  • SOXE Transcription Factors
  • Syndrome
  • Transcription Factors
  • Waardenburg Syndrome / complications
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / physiopathology

Substances

  • DNA-Binding Proteins
  • High Mobility Group Proteins
  • SOX10 protein, human
  • SOXE Transcription Factors
  • Transcription Factors