RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

Am J Hum Genet. 1998 Aug;63(2):322-6. doi: 10.1086/301987.
No abstract available

Publication types

  • Comment
  • Editorial
  • Review

MeSH terms

  • Animals
  • Cholesterol / metabolism*
  • Humans
  • Morphogenesis
  • Oxidoreductases / genetics
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Smith-Lemli-Opitz Syndrome / enzymology
  • Smith-Lemli-Opitz Syndrome / genetics*

Substances

  • Cholesterol
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase