Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation

Clin Dysmorphol. 2010 Jul;19(3):150-152. doi: 10.1097/MCD.0b013e32833593a1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics*
  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Cleidocranial Dysplasia / complications
  • Cleidocranial Dysplasia / diagnostic imaging
  • Cleidocranial Dysplasia / genetics*
  • Core Binding Factor Alpha 1 Subunit / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation / genetics*
  • Parietal Bone / diagnostic imaging
  • Parietal Bone / pathology*
  • Pregnancy
  • Radiography
  • Skull / diagnostic imaging
  • Skull / pathology

Substances

  • Core Binding Factor Alpha 1 Subunit
  • RUNX2 protein, human