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

doi:10.1002/ccr3.4507

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

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › Research › peer-review

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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.

Original language	English
Article number	e04507
Journal	Clinical Case Reports
Volume	9
Issue number	7
Number of pages	5
ISSN	2050-0904
DOIs	https://doi.org/10.1002/ccr3.4507
Publication status	Published - Jul 2021

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10.1002/ccr3.4507Licence: CC BY-NC

Open Access VersionFinal published version, 349 KBLicence: CC BY-NC

https://doi.org/10.22541/au.161892487.74518530/v1

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1 Journal article

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
Miceikaite, I., Bak, G. S., Larsen, M. J., Kristiansen, B. S. & Torring, P. M., Jul 2021, In: Clinical Case Reports. 9, 7, 5 p., e04507.
Research output: Contribution to journal › Journal article › Research › peer-review

Open Access
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221 Downloads (Pure)

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title = "Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death",

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.",

author = "Ieva Miceikaite and Bak, \{Geske Sidsel\} and Larsen, \{Martin Jakob\} and Kristiansen, \{Britta Schlott\} and Torring, \{Pernille Mathiesen\}",

year = "2021",

month = jul,

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journal = "Clinical Case Reports",

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AU - Miceikaite, Ieva

AU - Bak, Geske Sidsel

AU - Larsen, Martin Jakob

AU - Kristiansen, Britta Schlott

AU - Torring, Pernille Mathiesen

PY - 2021/7

Y1 - 2021/7

N2 - 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.

AB - 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.

U2 - 10.1002/ccr3.4507

DO - 10.1002/ccr3.4507

M3 - Journal article

C2 - 34306696

SN - 2050-0904

VL - 9

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 7

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

Abstract

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

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