Diagnosis of Smith-Lemli-Opitz syndrome

N Engl J Med. 1994 Jun 9;330(23):1686-7.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Cholesterol / blood
  • Dehydrocholesterols / blood
  • Genitalia / abnormalities
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Microcephaly / diagnosis*
  • Spectrophotometry / methods
  • Syndrome

Substances

  • Dehydrocholesterols
  • Cholesterol
  • 7-dehydrocholesterol