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

Shiqin Huang; Mei Li; Yunli Han; Hai Yuan; Xiaolan Chen; Yunxuan Su; Xing Li

doi:10.22541/au.172151769.91930243/v1

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

Shiqin Huang,
Mei Li,
Yunli Han,
Hai Yuan,
Xiaolan Chen,
Yunxuan Su,
Xing Li

Abstract

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

29 May 2024Submitted to Clinical Case Reports

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06 Jun 2024Submission Checks Completed

06 Jun 2024Assigned to Editor

16 Jun 2024Reviewer(s) Assigned

26 Jul 2024Review(s) Completed, Editorial Evaluation Pending

26 Jul 2024Editorial Decision: Revise Minor

06 Aug 20241st Revision Received

07 Aug 2024Submission Checks Completed

07 Aug 2024Assigned to Editor

07 Aug 2024Review(s) Completed, Editorial Evaluation Pending

19 Aug 2024Reviewer(s) Assigned

21 Sep 2024Editorial Decision: Revise Minor

Abstract

Peer review status:IN REVISION