Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping
Our study suggests that SLC6A3 may represent a potential contributor to neurodevelopmental impairments in CCAs. Further, CMA-based CNV screening is critical for early intervention in high-risk children. These findings bridge genetic etiology with clinical phenotypes and offer insights into future targeted therapeutic strategies.
Authors
- Shan-yu Liu
- Wei Huang (ORCID: https://orcid.org/0000-0001-5426-5467)
- Haibin Ou (ORCID: https://orcid.org/0000-0003-3208-3632)
- Weihe Tan
- Qin She (ORCID: https://orcid.org/0000-0003-0216-8950)
- Li Wang (ORCID: https://orcid.org/0000-0003-2165-0080)
- Dandan Wang (ORCID: https://orcid.org/0000-0001-7234-9517)
Institutions
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1186/s13039-025-00725-4
- Primary Topic
- Fetal and Pediatric Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Guangzhou Medical University
- Guangdong Medical Research Foundation