Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report
This report expands the mutational spectrum of <i>KAT6A</i> and underscores the critical diagnostic utility of WES in children with unexplained neurodevelopmental disorders, enabling precise genetic counseling and avoiding unnecessary investigations.
Authors
- Shengjie Ling (ORCID: https://orcid.org/0000-0003-1156-0479)
- Weitong Guo
- Hao Wang (ORCID: https://orcid.org/0000-0001-6881-9977)
- Yiming Zhang
- Tong Liu
Institutions
- Jinan Maternity And Care Hospital (CN)
- Jinan Central Hospital (CN)
- Shandong First Medical University (CN)
Publication Details
- Journal
- Translational Pediatrics
- Published
- 2026-02-01
- DOI
- https://doi.org/10.21037/tp-2025-aw-695
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00