Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping

Abstract Objective This study aimed to investigate the role of pathogenic copy number variations (CNVs) in neurodevelopmental impairments among children with corpus callosum abnormalities (CCAs). We focused primarily on SLC6A3 associated mechanisms and aimed to delineate genotype-phenotype correlati...

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Bibliographic Details
Main Authors: Shan-yu Liu, Wei Huang, Hui-lin Ou, Li Wang, Dan-dan Wang, Wei-he Tan, Qin She
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Molecular Cytogenetics
Online Access:https://doi.org/10.1186/s13039-025-00725-4
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