De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome

Am J Med Genet A. 2007 Aug 1;143A(15):1799-801. doi: 10.1002/ajmg.a.31802.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 11
  • Female
  • Humans
  • Karyotyping
  • Mutation*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Pregnancy
  • Smith-Lemli-Opitz Syndrome / embryology
  • Smith-Lemli-Opitz Syndrome / genetics*

Substances

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