title: Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
authors.affiliation: Research Institute of Child Health, Department of Biochemical and Molecular Genetics, Brno, Czech Republic. liborkoz@hotmail.com
authors.forename: L
authors.initials: L
authors.lastname: Kozák
authors.forename: H
authors.initials: H
authors.lastname: Francová
authors.forename: E
authors.initials: E
authors.lastname: Hrabincová
authors.forename: D
authors.initials: D
authors.lastname: Procházková
authors.forename: V
authors.initials: V
authors.lastname: Jüttnerová
authors.forename: V
authors.initials: V
authors.lastname: Bzdúch
authors.forename: P
authors.initials: P
authors.lastname: Simek
mesh_terms: D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012326:RNA Splicing; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase