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Article

Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.

Pediatric research - 1 Dec 2025

Assadourian Anahid A, Martinez-Agosto Julian A

Abstract excerpt

Neurodevelopmental disorders (NDDs) include a broad spectrum of phenotypes spanning from intellectual disability (ID) to developmental delay (DD) and autism spectrum disorder (ASD). As neurodevelopmental phenotypes are a common presenting feature of an underlying genetic condition, professional medical organizations recommend genetic testing for all individuals with a NDD. When testing is pursued, identified...

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PMID: 41274961
DOI: 10.1038/s41390-025-04611-y
PMCID: PMC12875870

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