Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Torring

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

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. Extra attention is recommended when these variants are detected.

Original languageEnglish
Article numbere04507
JournalClinical Case Reports
Volume9
Issue number7
Number of pages5
ISSN2050-0904
DOIs
Publication statusPublished - Jul 2021

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