Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
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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.
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- europepmc
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- unpaywall
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