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

Ieva Miceikaite,Geske Sidsel Bak,Martin Jakob Larsen,Britta Schlott Kristiansen,Pernille Mathiesen Torring

CLINICAL CASE REPORTS（2021）

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摘要

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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关键词

cystic hygroma,hydrops fetalis,Noonan syndrome,prenatal screening,RIT1

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