A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype

Keyphrases

• Point mutation 100%
• Hypomorphic mutation 100%
• Neuropsychiatric Phenotype 100%
• Methyl-CpG-binding Protein 2 (MeCP2) 100%
• Rett Syndrome 42%
• Obesity 28%
• Intellectual Disability 14%
• Transcriptional Repressor 14%
• Mouse Model 14%
• Behavioral Deficits 14%
• Immunofluorescence 14%
• Proband 14%
• Immunoblotting 14%
• Neurobehavior 14%
• Learning Impairment 14%
• Novel mutation 14%
• Motor Deficits 14%
• Functional Activity 14%
• Heterochromatin 14%
• Mutation Analysis 14%
• Neurodevelopmental 14%
• Social-Behavioral 14%
• Neuropsychiatric Manifestations 14%
• Social Deficits 14%
• Mild Phenotype 14%
• Language Growth 14%
• Gross Motor Function 14%
• MECP2 Gene 14%
• Partial Reduction 14%
• Social Learning 14%
• Preserved Speech Variant 14%
• Methyl-binding Domain 14%
• Human-related 14%
• Xq28 14%

Biochemistry, Genetics and Molecular Biology

• Point Mutation 100%
• MECP2 100%
• Rett Syndrome 75%
• Allele 25%
• Wild Type 25%
• Mouse Model 25%
• Immunofluorescence 25%
• Missense Mutation 25%
• Binding Domain 25%
• Proband 25%
• Intellectual Disability 25%
• Transcriptional Repressor 25%
• Motor Performance 25%
• Heterochromatin 25%
• Social Learning 25%
• Immunoblotting 25%

Neuroscience

• Point Mutation 100%
• MECP2 100%
• Rett Syndrome 75%
• Repressor 25%
• Immunofluorescence 25%
• Missense Mutation 25%
• Motor Skills 25%
• Heterochromatin 25%
• Immunoblotting 25%
• Intellectual and Developmental Disabilities 25%