Case report: Novel deletions in the 6p21.33 involving the CSNK2B gene in patients with Poirier-Bienvenu neurodevelopmental syndrome and literature review
Our data suggest that the <i>CSNK2B</i> variant or 6p21.33 deletion should be considered in patients with intellectual disability and epilepsy, especially those characterized by biphasic patterns and digital anomalies.
Authors
- Xuan Zhang (ORCID: https://orcid.org/0000-0001-5366-3877)
- Wei Sun
- Hongjuan Lu
- Yichen Ji
Institutions
- Capital Medical University (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2024-10-18
- DOI
- https://doi.org/10.3389/fmed.2024.1441573
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55