No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia

J Med Genet. 2004 Nov;41(11):e119. doi: 10.1136/jmg.2004.022079.
No abstract available

MeSH terms

  • Adult
  • Antigens, CD
  • Arabs / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Endoglin
  • Family Health
  • Female
  • Fetal Death / genetics
  • Homozygote*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation
  • Mutation, Missense*
  • Pedigree
  • Receptors, Cell Surface
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic / ethnology
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Vascular Cell Adhesion Molecule-1 / genetics*

Substances

  • Antigens, CD
  • ENG protein, human
  • Endoglin
  • Receptors, Cell Surface
  • Vascular Cell Adhesion Molecule-1