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Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
  • +2
  • Ieva Miceikaite,
  • Geske Bak,
  • Martin Larsen,
  • Britta Kristiansen,
  • Pernille Torring
Ieva Miceikaite
Odense Universitetshospital
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Geske Bak
Odense University Hospital
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Martin Larsen
Odense Universitetshospital
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Britta Kristiansen
Odense Universitetshospital
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Pernille Torring
Odense Universitetshospital
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Abstract

Here we describe two clinical prenatal cases with rare de novo RIT1 variants which showed more severe clinical manifestations than other Noonan Syndrome genotypes, resulting in fetal death. It is recommended that extra attention would be exercised when these variants are detected, and an appropriate patient counselling would be provided.

Peer review status:ACCEPTED

13 Apr 2021Submitted to Clinical Case Reports
14 Apr 2021Submission Checks Completed
14 Apr 2021Assigned to Editor
20 Apr 2021Reviewer(s) Assigned
28 Apr 2021Review(s) Completed, Editorial Evaluation Pending
02 May 2021Editorial Decision: Revise Minor
15 May 20211st Revision Received
17 May 2021Submission Checks Completed
17 May 2021Assigned to Editor
17 May 2021Review(s) Completed, Editorial Evaluation Pending
24 May 2021Editorial Decision: Accept