Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death
| Autor: | Geske S. Bak, Pernille Mathiesen Tørring, Britta Schlott Kristiansen, Martin Jakob Larsen, Ieva Miceikaite |
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| Rok vydání: | 2021 |
| Předmět: |
Medicine (General)
medicine.medical_specialty Fetal death business.industry Obstetrics RIT1 Cystic hygroma Case Report Case Reports General Medicine medicine.disease hydrops fetalis R5-920 Prenatal screening cystic hygroma prenatal screening Fetal hydrops Hydrops fetalis Noonan syndrome Medicine business |
| Zdroj: | Clinical Case Reports, Vol 9, Iss 7, Pp n/a-n/a (2021) Miceikaite, I, Bak, G S, Larsen, M J, Kristiansen, B S & Torring, P M 2021, ' Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death ', Clinical Case Reports, vol. 9, no. 7, e04507 . https://doi.org/10.1002/ccr3.4507 Clinical Case Reports |
| ISSN: | 2050-0904 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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