title: [Molecular diagnosis of multiple malformation syndrome].
authors.affiliation: Department of Pediatrics, Keio University School of Medicine.
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D050882:CREB-Binding Protein / Q000235:genetics; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009154:Mutation; D016133:Polymerase Chain Reaction; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human