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

Internet

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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