CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Keyphrases

• Neurodevelopmental Disorders 100%
• Mutational Spectrum 100%
• Clinical Spectrum 100%
• Drosophilidae 66%
• Ctcf 66%
• Biological Processes 33%
• Drosophila Melanogaster 33%
• International Collaboration 33%
• Neurological Function 33%
• Disability 33%
• Functional Role 33%
• Blood Samples 33%
• Chromatin 33%
• Memory Deficits 33%
• RNA Sequencing (RNA-seq) 33%
• Growth Restriction 33%
• Nervous System 33%
• Learning Impairment 33%
• Behavioral Abnormalities 33%
• Splice Site 33%
• Pathogenic Variants 33%
• Feeding Difficulties 33%
• Missense Variants 33%
• Associated Phenotypes 33%
• System Defects 33%
• Mild Developmental Delay 33%

Biochemistry, Genetics and Molecular Biology

• CTCF 100%
• RNA 25%
• Missense 25%
• Drosophila Melanogaster 25%
• RNA Sequence 25%
• Biological Phenomena and Functions Concerning the Entire Organism 25%