Open access
2026
A Novel Variant of ARID1B-Related CSS in a Rwandan patient: A Case Report
This report describes the first genetically confirmed case of CSS in Rwanda, highlighting the diagnostic utility of advanced molecular genetic testing in children with developmental delay and dysmorphic features and underscores the importance of expanding access to clinical genetic services in resource-limited settings...
Adelaide Urugwiro Horanimpundu, N. Dukuze, Hannah Umutoni Mugaragu et al.
· Rwanda medical journal · 0 citations