Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
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ABSTRACT:
SUBMITTER: Miceikaite I
PROVIDER: S-EPMC8294143 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Publications
Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Miceikaite Ieva I Bak Geske Sidsel GS Larsen Martin Jakob MJ Kristiansen Britta Schlott BS Torring Pernille Mathiesen PM
Clinical case reports 20210721 7
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. ...[more]
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