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

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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.

Originalsprog	Engelsk
Artikelnummer	e04507
Tidsskrift	Clinical Case Reports
Vol/bind	9
Udgave nummer	7
Antal sider	5
ISSN	2050-0904
DOI	https://doi.org/10.1002/ccr3.4507
Status	Udgivet - jul. 2021

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10.1002/ccr3.4507Licens: CC BY-NC

Open Access VersionForlagets udgivne version, 349 KBLicens: CC BY-NC

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

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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, I: Clinical Case Reports. 9, 7, 5 s., e04507.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Citationsformater

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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.",

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

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AU - Torring, Pernille Mathiesen

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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.

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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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