Case report
Open access
Jul 2026
Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the BUB1 Gene
A descriptive genomic observation of a teenage boy presenting with epilepsy, intellectual disability, and mild facial dysmorphism, found to carry a 48.55 kb 2q13 microdeletion restricted to the BUB1 locus alongside a concurrent 11q21 microdeletion is presented.
V. Picos-Cárdenas, Roberto Iván Avendaño-Gálvez, A. K. de la Herrán-Arita et al.
· Pediatric Reports · 0 citations