[Molecular diagnosis of multiple malformation syndrome].
Torii
Chiharu
C
Department of Pediatrics, Keio University School of Medicine.
Kosaki
Kenjiro
K
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
D050882:CREB-Binding Protein; C494363:CREBBP protein, human