Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

Am J Med Genet A. 2006 Feb 15;140(4):398-401. doi: 10.1002/ajmg.a.31061.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiovascular Abnormalities / diagnostic imaging
  • Cardiovascular Abnormalities / genetics*
  • Chromosomes, Human, Pair 6*
  • Cleidocranial Dysplasia / diagnostic imaging
  • Cleidocranial Dysplasia / genetics*
  • Core Binding Factor Alpha 1 Subunit / genetics*
  • Gene Deletion*
  • Humans
  • Infant
  • Male
  • Musculoskeletal Abnormalities / diagnostic imaging
  • Musculoskeletal Abnormalities / genetics*
  • Radiography
  • Vascular Endothelial Growth Factor A / genetics*

Substances

  • Core Binding Factor Alpha 1 Subunit
  • RUNX2 protein, human
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A