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Author

Roberto Iván Avendaño-Gálvez

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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. · 0 citations