[Molecular diagnosis of multiple malformation syndrome]

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics*
• CREB-Binding Protein / genetics
• Chromatography, High Pressure Liquid / methods*
• Genetic Testing* / methods
• Humans
• Molecular Diagnostic Techniques* / methods
• Mutation
• Polymerase Chain Reaction
• Rubinstein-Taybi Syndrome / diagnosis
• Rubinstein-Taybi Syndrome / genetics
• Syndrome