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An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
  • Daniel Zamanfar,
  • Mobin Ghazaiean
Daniel Zamanfar
Iran University of Medical Sciences

Corresponding Author:[email protected]

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Mobin Ghazaiean
Mazandaran University of Medical Sciences
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Abstract

Vitamin D-dependent rickets type 1 (VDDRIA) is an autosomal recessive disease caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene encoding the enzyme 1 alpha-hydroxylase. We report a known VDDRIA case presenting with hypotonia, growth and developmental disorders.

Peer review status:ACCEPTED

05 Oct 2022Submitted to Clinical Case Reports
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07 Oct 2022Submission Checks Completed
07 Oct 2022Assigned to Editor
25 Oct 2022Reviewer(s) Assigned
13 Nov 2022Review(s) Completed, Editorial Evaluation Pending
23 Nov 2022Editorial Decision: Revise Minor
17 Dec 20221st Revision Received
21 Dec 2022Submission Checks Completed
21 Dec 2022Assigned to Editor
21 Dec 2022Review(s) Completed, Editorial Evaluation Pending
25 Dec 2022Reviewer(s) Assigned
20 Jan 2023Editorial Decision: Revise Minor
07 Feb 20232nd Revision Received
08 Feb 2023Assigned to Editor
08 Feb 2023Submission Checks Completed
08 Feb 2023Review(s) Completed, Editorial Evaluation Pending
13 Feb 2023Editorial Decision: Accept