Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report

• Main Authors: Nathan A. Keller (Author), Luis A. Bracero (Author), Insaf Kouba (Author), Abigail Steinberg (Author), Jolene Muscat (Author), David Bergman (Author)
• Format: Knjiga
• Izdano: Elsevier, 2024-03-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined. In this case report, a 38-year-old Hispanic woman, G5P3013, with a monochorionic diamniotic twin gestation with one fetus displaying signifi...