Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene

Ann N Y Acad Sci. 1996 Jun 8:785:137-49. doi: 10.1111/j.1749-6632.1996.tb56252.x.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities*
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 2
  • Disorders of Sex Development*
  • Female
  • High Mobility Group Proteins / genetics
  • Humans
  • Male
  • Mutation*
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • SOX9 Transcription Factor
  • Sex Differentiation
  • Transcription Factors / genetics
  • Translocation, Genetic
  • X Chromosome
  • Y Chromosome

Substances

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