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Clinical and genetic analysis of multi-system pseudohypoaldosteronism type 1 caused by a novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC)
  • +4
  • Sicui Hu,
  • hongxiu yang,
  • cheng Li,
  • qiannan jiang,
  • lingyan qiao,
  • conghui hu,
  • Tang Li
Sicui Hu
Qingdao Women and Children's Hospital
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hongxiu yang
Qingdao Women and Children's Hospital
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cheng Li
Qingdao Women and Children's Hospital
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qiannan jiang
Qingdao Women and Children's Hospital
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lingyan qiao
Qingdao Women and Children's Hospital
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conghui hu
Qingdao Women and Children's Hospital
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Tang Li
Qingdao Women and Children's Hospital
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Abstract

This article aims to provide a comprehensive review of the clinical features and genetics basis of multi-system pseudohypoaldosteronism type 1 caused by SCNN1B gene mutations.

Peer review status:IN REVISION

10 Dec 2020Submitted to Clinical Case Reports
12 Dec 2020Assigned to Editor
12 Dec 2020Submission Checks Completed
09 Jan 2021Reviewer(s) Assigned
16 Jan 2021Review(s) Completed, Editorial Evaluation Pending
21 Jan 2021Editorial Decision: Revise Minor