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

Ieva MiceikaiteGeske Sidsel BakMartin Jakob LarsenBritta Schlott KristiansenPernille Mathiesen Torring

Published in: Clinical case reports (2021)

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.

Keyphrases

copy number
pregnant women
early onset
working memory
case report