Open AccessPrenatal cases with rare RIT1 variants causing severe fetal hydrops and death
Author(s) -
Miceikaite Ieva,
Bak Geske Sidsel,
Larsen Martin Jakob,
Kristiansen Britta Schlott,
Torring Pernille Mathiesen
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4507
Subject(s) - medicine , noonan syndrome , fetus , prenatal diagnosis , fetal death , pediatrics , pregnancy , genetics , biology
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.