The Journal of Clinical Endocrinology & Metabolism
Neuroimaging Abnormalities and Genotype-Phenotype Correlations in Noonan Syndrome: A Multicenter Cohort Study
Abstract Context Neuroradiological findings in Noonan syndrome (NS) remain insufficiently characterized Objective To characterize neuroimaging abnormalities in children with genetically confirmed NS and evaluate their associations with clinical phenotype Design, Setting, and Participants In this multicenter retrospective study, brain MRI scans and longitudinal clinical and genetic data were reviewed from children with genetically confirmed NS evaluated between 2008 and 2023 at seven pediatric endocrinology centers …