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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.
  • Miceikaite I; Department of Clinical Genetics Odense University Hospital Odense Denmark.
  • Bak GS; Human Genetics Unit Department of Clinical Research Faculty of Health Sciences University of Southern Denmark Odense Denmark.
  • Larsen MJ; Fetal Medicine Unit Department of Obstetrics and Gynecology Odense University Hospital Odense Denmark.
  • Kristiansen BS; Department of Clinical Genetics Odense University Hospital Odense Denmark.
  • Torring PM; Human Genetics Unit Department of Clinical Research Faculty of Health Sciences University of Southern Denmark Odense Denmark.
Clin Case Rep ; 9(7): e04507, 2021 Jul.
Article en En | MEDLINE | ID: mdl-34306696
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.
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2021 Tipo del documento: Article