Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression

Am J Med Genet. 2001 Jun 15;101(2):174-7.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Amniocentesis*
  • Amnion / diagnostic imaging
  • Amnion / pathology*
  • Collagen / genetics*
  • DNA / genetics
  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / pathology
  • Female
  • Fetal Death / genetics
  • Fetal Death / pathology
  • Heterozygote
  • Humans
  • Mutation
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Ultrasonography, Prenatal

Substances

  • Collagen
  • DNA