Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.

Abstract excerpt

Noonan syndrome is the most common RASopathy and is associated with high rates of neurodevelopmental disorders. Prior neuroimaging studies in children with Noonan syndrome have identified structural effects on subcortical regions, though most focus on volumetric differences, overlooking finer morphological changes. These studies also tend to examine common genetic variants, excluding rarer forms within the Noonan...

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• Brain
• Child
• Child, Preschool
• Genetic Association Studies
• Magnetic Resonance Imaging