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Your search keyword '"Martin Jakob Larsen"' showing total 2 results
Start Over Author "Martin Jakob Larsen" Journal clinical case reports
2 results on '"Martin Jakob Larsen"'

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

Author

Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, and Pernille Mathiesen Torring

Subjects
cystic hygroma, hydrops fetalis, Noonan syndrome, prenatal screening, RIT1, Medicine, Medicine (General), R5-920
Abstract

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.

Published
2021
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2. Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

Author

Geske S. Bak, Pernille Mathiesen Tørring, Britta Schlott Kristiansen, Martin Jakob Larsen, and Ieva Miceikaite

Subjects
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
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.

Published
2021

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