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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:[email protected]

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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.

Peer review status:ACCEPTED

09 Feb 2022Submitted to Clinical Case Reports
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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