title: DHCR7 and Smith-Lemli-Opitz syndrome.
authors.affiliation: Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont. nowaczyk@hhsc.ca
authors.forename: M J
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: L M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010641:Phenotype; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy
chemical_list: D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase