Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Medicine and Dentistry

• Combination Therapy 100%
• Glutamic Acid 100%
• Gene 100%
• Epileptic Seizure 100%
• Diseases 50%
• Biological Product 50%
• Diagnosis 50%
• Acetylcholinesterase 50%
• Drug 50%
• Chemotherapeutic Agent 50%
• Haploinsufficiency 50%
• Analysis 50%
• Brain 50%
• Girl 50%
• Neuron 50%
• Syndrome 50%
• Gut 50%
• Pancreas 50%

Biochemistry, Genetics and Molecular Biology

• Nested Gene 100%
• Mental Retardation 100%
• Glutamate 100%
• Gene Silencing 100%
• Array Comparative Genomic Hybridization 100%
• SYNGAP1 100%
• Mutation 50%
• Acetylcholinesterase 50%
• Modulation 50%
• Haploinsufficiency 50%
• Secretory Pathway 50%
• Processing 50%