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Shiqin Huang
Public Documents
1
Missense variant in U2AF2 leads to systemic dysmorphism and epilepsy: Report of two c...
Shiqin Huang
and 6 more
July 20, 2024
Analyzed the clinical characteristics and genetic characteristics of two patients with the U2AF2 gene variant causing systemic malformation and epilepsy. Methods The clinical data and genetic test results of two patients with systemic deformity and epilepsy were retrospectively analyzed, and the literature was reviewed. Results All two patients presented with