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Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
Ieva Miceikaite1,2, Geske Sidsel Bak3, Martin Jakob Larsen1,2
1Department of Clinical Genetics Odense University Hospital Odense Denmark.
Clinical Case Reports
|July 26, 2021
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.
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