title: Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: L M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: L
authors.initials: L
authors.lastname: Hunnisett
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: T
authors.initials: T
authors.lastname: Costa
authors.forename: M J M
authors.initials: MJ
authors.lastname: Nowaczyk
mesh_terms: D002170:Canada; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D020641:Polymorphism, Single Nucleotide; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
chemical_list: D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase