Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Keyphrases

• Genome Analysis 100%
• Intellectual Disability 100%
• Neurodevelopmental Disorders 100%
• Missense Variants 100%
• PraderWilli Syndrome 100%
• Likely Pathogenic Variant 100%
• Necdin 100%
• Treatment Strategy 50%
• Recurrence Risk 50%
• Disease Mechanisms 50%
• Developmental Pathways 50%
• Gene Network 50%
• Disease Treatment 50%
• Exome Sequencing 50%
• Sleep Disturbance 50%
• OR Genes 50%
• Helix 50%
• Chromosomal Abnormalities 50%
• Inheritance Pattern 50%
• RAI1 Gene 50%
• Microdeletion 50%
• Genetic Overlap 50%
• 15q11.2 50%
• Nonsense Variant 50%
• Dysmorphic Features 50%
• IQSEC2 50%
• 17p11.2 50%
• SAND Domain 50%
• Pathogenic Gene Variants 50%
• RAI1 50%
• DEAF1 50%
• Clinical Overlap 50%

Biochemistry, Genetics and Molecular Biology

• Mental Retardation 100%
• Exome 100%
• RAI1 100%
• Missense 100%
• Necdin 100%
• Genetics 50%
• Gene Network 50%
• Exome Sequencing 50%
• Chromosomal Abnormalities 50%
• Alpha Helix 50%
• Allele 50%
• Inheritance 50%