The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay
and investigate the natural history of KS across different populations for optimal patient management and to reduce diagnostic odyssey. The diagnostic utility of exome sequencing for neurodevelopmental disorders needs to be strengthened, with strong emphasis on expanding genomic medicine to help diagnose rare diseases in resource-limited settings.
Authors
- Vinciane Dideberg (ORCID: https://orcid.org/0000-0002-9998-6687)
- Jeanne Primitive Uyisenga
- Annette Uwineza (ORCID: https://orcid.org/0000-0003-1749-0395)
- Janvier Hitayezu (ORCID: https://orcid.org/0000-0001-5197-4559)
- Léon Mutesa (ORCID: https://orcid.org/0000-0002-5308-3706)
- Abdullateef Isiaka Alagbonsi (ORCID: https://orcid.org/0000-0002-5462-9950)
- J. H. Caberg
- Esther Uwibambe (ORCID: https://orcid.org/0009-0004-2046-9495)
- Norbert Dukuze
- Vincent Bours
Institutions
- University of Kigali (RW)
- University of Rwanda (RW)
- Centre Hospitalier Universitaire de Kigali (RW)
- Centre Hospitalier Universitaire de Liège (BE)
- Rwanda Biomedical Center (RW)
Publication Details
- Journal
- Genes
- Published
- 2026-04-07
- DOI
- https://doi.org/10.3390/genes17040429
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University of Rwanda
- European Commission
- African Academy of Sciences