Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization

Hum Mutat. 1998:Suppl 1:S114-6. doi: 10.1002/humu.1380110138.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Binding Sites
  • Child
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Disorders of Sex Development / genetics*
  • Exons / genetics
  • High Mobility Group Proteins / genetics*
  • High Mobility Group Proteins / metabolism
  • Humans
  • Japan
  • Male
  • Mutation, Missense
  • Osteochondrodysplasias / genetics*
  • Point Mutation
  • SOX9 Transcription Factor
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • High Mobility Group Proteins
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Transcription Factors
  • DNA