A Truncating Variant in RFX7 Causing Developmental Delay and Intellectual Disability.
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Presenting Author - Attila Dos Santos, BS; Co-Author - Talia Sisroe, BS; Co-Author - Dong Li, PhD; Co-Author - Elizabeth J. Bhoj, MD, PhD; Co-Author - Beverly Nelson, MD; Co-Author - Andrew K. Sobering, PhD;
Meta Tag
Cognitive Disorders
Congenital Anomaly
Dysmorphology
Exome sequencing
Intellectual disability
Malformation
Co-Author Talia Sisroe, BS
Co-Author Dong Li, PhD
Co-Author Elizabeth J. Bhoj, MD, PhD
Co-Author Beverly Nelson, MD
Co-Author Andrew K. Sobering, PhD
Presenting Author Attila Dos Santos, BS
Keywords
developmental delay
intellectual disability
RFX7 gene
de novo variant
transcription factors
neuronal development
autism spectrum disorder
allelic heterogeneity
phenotypic variability
truncating variants

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