Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

Am J Med Genet A. 2012 Aug;158A(8):2047-9. doi: 10.1002/ajmg.a.35457. Epub 2012 Jun 27.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Adhesion Molecules / genetics*
  • Extracellular Matrix Proteins / genetics*
  • Heart Septal Defects, Ventricular
  • Heterotaxy Syndrome / genetics*
  • Humans
  • Mutation / genetics*
  • Mutation, Missense*
  • Syndrome

Substances

  • CRELD1 protein, human
  • Cell Adhesion Molecules
  • Extracellular Matrix Proteins