title: [Smith-Lemli-Opitz syndrome].
authors.affiliation: Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Shinya
authors.initials: S
authors.lastname: Matsuura
authors.forename: Masato
authors.initials: M
authors.lastname: Tsukahara
mesh_terms: D003684:Dehydrocholesterols / Q000378:metabolism; D003937:Diagnosis, Differential; D006801:Humans; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D011379:Prognosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy
chemical_list: D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase