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Identification of three novel variants in the UGT1A1 gene as a cause of Crigler-Najjar syndrome type 1
  • Mohammad Javad Ghorbani,
  • Seyed Mohsen Dehghani
Mohammad Javad Ghorbani
Shiraz University of Medical Sciences

Corresponding Author:[email protected]

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Seyed Mohsen Dehghani
Shiraz University of Medical Sciences
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Crigler-Najjar syndrome type I (CN-I) is a rare inherited disorder with a frequency of one per million at birth. Patients with CN-I have severe hyperbilirubinemia and usually die due to kernicterus. CN-I occurs due to variants within the UGT1A1 gene. The present study aimed to identify genetic defects underlying CN-I.
08 Jun 2022Submitted to Clinical Case Reports
11 Jun 2022Assigned to Editor
11 Jun 2022Submission Checks Completed
06 Jul 2022Reviewer(s) Assigned
30 Aug 2022Review(s) Completed, Editorial Evaluation Pending
06 Sep 2022Editorial Decision: Revise Minor