Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome

Eur J Hum Genet. 2015 Mar;23(3):277-8. doi: 10.1038/ejhg.2014.87. Epub 2014 May 14.
No abstract available

Publication types

  • Letter

MeSH terms

  • Humans
  • Mutation
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Phenotype
  • Smith-Lemli-Opitz Syndrome / diagnosis*
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Smith-Lemli-Opitz Syndrome / therapy

Substances

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