title: Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.
authors.forename: V
authors.initials: V
authors.lastname: Bzdúch
authors.forename: L
authors.initials: L
authors.lastname: Kozák
authors.forename: H
authors.initials: H
authors.lastname: Francová
authors.forename: D
authors.initials: D
authors.lastname: Behúlová
mesh_terms: D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*
chemical_list: D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase