Article

Missense variant in U2AF2 leads to systemic dysmorphism and epilepsy: Report of two cases and literature review

2024-07-20

Abstract excerpt

Analyzed the clinical characteristics and genetic characteristics of two patients with the U2AF2 gene variant causing systemic malformation and epilepsy. <h4>Methods: </h4> The clinical data and genetic test results of two patients with systemic deformity and epilepsy were retrospectively analyzed, and the literature was reviewed. <h4>Results: </h4> All two patients presented with

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Literature Corpus work: 91d9feb2-0748-5991-a4f6-484a7aaf4087
DOI: 10.22541/au.172151769.91930243/v1

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