Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

J Med Genet. 2004 Apr;41(4):e47. doi: 10.1136/jmg.2003.013185.
No abstract available

Publication types

  • Evaluation Study
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Flanking Region
  • Animals
  • Base Sequence
  • Bone and Bones / diagnostic imaging
  • Child, Preschool
  • Chromosomes, Human, X
  • Chromosomes, Human, Y
  • Conserved Sequence
  • DNA Mutational Analysis / methods*
  • Disorders of Sex Development*
  • Female
  • Fishes / genetics
  • High Mobility Group Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Mice
  • Molecular Sequence Data
  • Oligonucleotide Array Sequence Analysis / methods*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Radiography
  • Regulatory Sequences, Nucleic Acid
  • Reproducibility of Results
  • SOX9 Transcription Factor
  • Sequence Deletion*
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • High Mobility Group Proteins
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Sox9 protein, mouse
  • Transcription Factors