authors
- Waye, John
- Eng, Barry
- Potter, Murray Alexander
- Nowaczyk, Malgorzata
- McFadden, Deborah
- Langlois, Sylvie
De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome
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Overview
status
publication date
- August 2007
has subject area
- 0604 Genetics (FoR)
- 1103 Clinical Sciences (FoR)
- Chromosomes, Human, Pair 11 (MeSH)
- Female (MeSH)
- Humans (MeSH)
- Karyotyping (MeSH)
- Mutation (MeSH)
- Oxidoreductases Acting on CH-CH Group Donors (MeSH)
- Pregnancy (MeSH)
- Smith-Lemli-Opitz Syndrome (MeSH)