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

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

Publikation: AndetAndet bidragForskning

Abstrakt

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.
OriginalsprogEngelsk
Publikationsdato20. apr. 2021
UdgiverAuthorea
Antal sider7
DOI
StatusUdgivet - 20. apr. 2021

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