title: Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol.
authors.affiliation: First Department of Pediatrics, University Children's Hospital, Bratislava, Slovakia.
authors.forename: V
authors.initials: V
authors.lastname: Bzdúch
authors.forename: D
authors.initials: D
authors.lastname: Behúlová
authors.forename: L
authors.initials: L
authors.lastname: Kozák
authors.forename: J
authors.initials: J
authors.lastname: Skodová
authors.forename: E
authors.initials: E
authors.lastname: Véghová
authors.forename: A
authors.initials: A
authors.lastname: Dello Russo
authors.forename: G
authors.initials: G
authors.lastname: Corso
authors.forename: F
authors.initials: F
authors.lastname: Bauer
mesh_terms: D002784:Cholesterol / Q000097:blood* / Q000172:deficiency; D000013:Congenital Abnormalities / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012150:Polymorphism, Restriction Fragment Length; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood* / Q000235:genetics
chemical_list: D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase