SINO Syndrome Associated with Heterozygous KIDINS220 Variants: A More Severe Presentation and Maternal Mosaicism
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Asset Subtitle
Presenting Author - Angela Lee, MD; Co-Author - Jorge Granadillo De Luque, MD, MSc;
Meta Tag
Brain/Nervous System
Clinical History
Cognitive Disorders
Congenital Anomaly
Exome sequencing
Eye disorders
Genotype-Phenotype Correlations
Intellectual disability
Maternal Genetic Disease
Pathogenesis
Structure/Function
Co-Author Jorge Granadillo De Luque, MD, MSc
Presenting Author Angela Lee, MD
Keywords
siblings
heterozygous
nonsense variant
KIDINS220 gene
SINO syndrome
aqueductal stenosis
ventriculoperitoneal shunt
G-tube dependence
developmental delays
maternal mosaicism

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