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

Ieva Miceikaite, Geske Bak, Martin Larsen, Britta Kristiansen, Pernille Torring

Research output: Other contributionResearch

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.
Original languageEnglish
Publication date20. Apr 2021
PublisherAuthorea
Number of pages7
DOIs
Publication statusPublished - 20. Apr 2021

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