Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females

Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) revealed a de novo frameshift variant of the X-...

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Detalles Bibliográficos
Autores principales: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323000/
https://www.ncbi.nlm.nih.gov/pubmed/35887945
http://dx.doi.org/10.3390/jcm11144182

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323000/
https://www.ncbi.nlm.nih.gov/pubmed/35887945
http://dx.doi.org/10.3390/jcm11144182

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