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A novel WDR60 mutation contributes to a delayed diagnosis of Jeune asphyxiating thoracic dystrophy in a chinese patient: A case report
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  • Xiangzhong Zhao,
  • Aihua Sui,
  • Li Cui,
  • Zhiying Liu,
  • Ruixiao Zhang,
  • Yue Han,
  • leping shao
Xiangzhong Zhao
The Affiliated Hospital of Qingdao University

Corresponding Author:fzzg.2002@163.com

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Aihua Sui
The Affiliated Hospital of Qingdao University
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Li Cui
The Affiliated Hospital of Qingdao University
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Zhiying Liu
The Affiliated Hospital of Qingdao University
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Ruixiao Zhang
Qingdao Municipal Hospital Group
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Yue Han
Qingdao Municipal Hospital Group
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leping shao
Qingdao Municipal Hospital Group
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Abstract

We reported a delayed diagnosised Chinese JATD case with mild skeletal phenotype, and presented with renal insufficiency as the initial symptom of disease onset. Novel bilateral c.2789C>T (p.S930L) mutations in WDR60 gene were identified. Our report will help to improve our awareness and diagnosibility for this disease in China.
09 Feb 2022Submitted to Clinical Case Reports
09 Feb 2022Submission Checks Completed
09 Feb 2022Assigned to Editor
29 Jul 2022Reviewer(s) Assigned
12 Aug 2022Review(s) Completed, Editorial Evaluation Pending
19 Aug 2022Editorial Decision: Revise Minor
08 Oct 20221st Revision Received
10 Oct 2022Submission Checks Completed
10 Oct 2022Assigned to Editor
10 Oct 2022Review(s) Completed, Editorial Evaluation Pending
20 Oct 2022Editorial Decision: Accept