Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease

• Główni autorzy: Marcos Yébenes Mayordomo (Autor), Sofian Al Shboul (Autor), Maria Gómez-Herranz (Autor), Asim Azfer (Autor), Alison Meynert (Autor), Donald Salter (Autor), Larry Hayward (Autor), Anca Oniscu (Autor), James T. Patton (Autor), Ted Hupp (Autor), Mark J. Arends (Autor), Javier Antonio Alfaro (Autor)
• Format: Książka
• Wydane: BMC, 2022-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Gorham-Stout disease is a rare condition characterized by vascular proliferation and the massive destruction of bone tissue. With less than 400 cases in the literature of Gorham-Stout syndrome, we performed a unique study combining whole-genome sequencing and RNA-Seq to probe the...