title: De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.
authors.affiliation: 1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada. waye@hhsc.ca
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Murray A
authors.initials: MA
authors.lastname: Potter
authors.forename: Małgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: Deborah
authors.initials: D
authors.lastname: McFadden
authors.forename: Sylvie
authors.initials: S
authors.lastname: Langlois
mesh_terms: D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000196:embryology / Q000235:genetics*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase