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

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.

Detalles Bibliográficos
Autores principales: Miceikaite, Ieva, Bak, Geske Sidsel, Larsen, Martin Jakob, Kristiansen, Britta Schlott, Torring, Pernille Mathiesen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8294143/
https://www.ncbi.nlm.nih.gov/pubmed/34306696
http://dx.doi.org/10.1002/ccr3.4507
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author Miceikaite, Ieva
Bak, Geske Sidsel
Larsen, Martin Jakob
Kristiansen, Britta Schlott
Torring, Pernille Mathiesen
author_facet Miceikaite, Ieva
Bak, Geske Sidsel
Larsen, Martin Jakob
Kristiansen, Britta Schlott
Torring, Pernille Mathiesen
author_sort Miceikaite, Ieva
collection PubMed
description 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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spelling pubmed-82941432021-07-23 Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death Miceikaite, Ieva Bak, Geske Sidsel Larsen, Martin Jakob Kristiansen, Britta Schlott Torring, Pernille Mathiesen Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2021-07-21 /pmc/articles/PMC8294143/ /pubmed/34306696 http://dx.doi.org/10.1002/ccr3.4507 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Miceikaite, Ieva
Bak, Geske Sidsel
Larsen, Martin Jakob
Kristiansen, Britta Schlott
Torring, Pernille Mathiesen
Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
title Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
title_full Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
title_fullStr Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
title_full_unstemmed Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
title_short Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
title_sort prenatal cases with rare rit1 variants causing severe fetal hydrops and death
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8294143/
https://www.ncbi.nlm.nih.gov/pubmed/34306696
http://dx.doi.org/10.1002/ccr3.4507
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AT kristiansenbrittaschlott prenatalcaseswithrarerit1variantscausingseverefetalhydropsanddeath
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