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Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing

25 Nov 2024

Abstract excerpt

INTRODUCTION: Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective method for uncovering genetic causes in patients with unexplained DD/ID. METHODS: We retrospectively analyzed WES data from 280...

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PMID: 39587513
DOI: 10.1186/s12887-024-05245-5

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