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A novel UBE2A splice site mutation with intellectual disability type Nascimento
  • +8
  • Shuyuan Yan,
  • yanling wang,
  • Ying chen,
  • Xiaoni Kuang,
  • Da Hou,
  • Xueyi Li,
  • Linglin Pan,
  • Guangwen Huang,
  • Xiangwen Peng,
  • Jun He,
  • Tuanmei Wang
Shuyuan Yan
Hunan Normal University
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yanling wang
Hunan Normal University
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Ying chen
Hunan Normal University
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Xiaoni Kuang
Hunan Normal University
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Da Hou
Hunan Normal University
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Xueyi Li
Hunan Normal University
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Linglin Pan
Hunan Normal University
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Guangwen Huang
Hunan Normal University
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Xiangwen Peng
Hunan Normal University
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Jun He
Hunan Normal University
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Tuanmei Wang
Hunan Normal University
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Abstract

Recently, only two splice-site mutations of the UBE2A gene have been observed in patients with X-linked ID type Nascimento (XLID). We found a novel splice site mutation in UBE2A (c.241+1 G>A) and novel clinical appearances, including a typical four-finger line and erected head unstable.

Peer review status:UNDER REVIEW

29 Jul 2021Submitted to Clinical Case Reports
29 Jul 2021Assigned to Editor
29 Jul 2021Submission Checks Completed
07 Sep 2021Reviewer(s) Assigned
17 Sep 2021Review(s) Completed, Editorial Evaluation Pending