Prenatal diagnosis of Smith-Lemli-Opitz syndrome

Am J Med Genet. 1995 Apr 10;56(3):286-7. doi: 10.1002/ajmg.1320560310.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Amniocentesis
  • Amniotic Fluid / chemistry
  • Cholesterol / metabolism*
  • Dehydrocholesterols / analysis
  • Female
  • Humans
  • Karyotyping
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Male
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal

Substances

  • Dehydrocholesterols
  • Cholesterol
  • 7-dehydrocholesterol