A SOX9 duplication and familial 46,XX developmental testicular disorder

N Engl J Med. 2011 Jan 6;364(1):91-3. doi: 10.1056/NEJMc1010311.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 46, XX Testicular Disorders of Sex Development / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
  • SOX9 Transcription Factor / genetics*
  • Sex-Determining Region Y Protein / genetics

Substances

  • SOX9 Transcription Factor
  • SOX9 protein, human
  • SRY protein, human
  • Sex-Determining Region Y Protein