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Rodriguez syndrome with an SF3B4 gene mutation: A case report
  • +3
  • Ryo Nakatani,
  • Rinshu Shimabukuro,
  • Shinsuke Hirabayashi,
  • Mikiko Aoki,
  • Michiko Yamanaka,
  • Gen Nishimura
Ryo Nakatani
St. Luke's International Hospital
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Rinshu Shimabukuro
St. Luke's International Hospital
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Shinsuke Hirabayashi
Hokkaido University
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Mikiko Aoki
St Luke's International University
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Michiko Yamanaka
St. Luke's International Hospital
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Gen Nishimura
St. Luke's International Hospital
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Abstract

The case was a male neonate born by emergent cesarean section due to non-reassuring fetal status at 30 weeks of gestation. His manifestations were consistent with those of Rodriguez syndrome. Molecular analysis revealed an SF3B4 mutation.

Peer review status:UNDER REVIEW

24 Jun 2021Submitted to Clinical Case Reports
26 Jun 2021Assigned to Editor
26 Jun 2021Submission Checks Completed
30 Jul 2021Reviewer(s) Assigned