Article

Trio-WES with CNV-seq for Genetic Diagnosis of DD/ID in Children: A Single-Center Study in China

2026-07-02

Abstract excerpt

<title>Abstract</title> <p>Background: Developmental delay/intellectual disability (DD/ID) is characterized by genetic heterogeneity. Early and accurate diagnosis that identifies pathogens is crucial for providing targeted clinical treatment. <h4>Methods:</h4> To evaluate the utility of gene sequencing and explore the potential molecular pathogenesis of DD/ID, we retrospectively analyzed the gene sequencing resul...

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Literature Corpus work: 30b9bbee-91b8-5710-a328-938be88db3c2
DOI: 10.21203/rs.3.rs-9276240/v1

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