Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

• Autores principales: Gregorio Serra (Autor), Sofia Felice (Autor), Vincenzo Antona (Autor), Maria Rita Di Pace (Autor), Mario Giuffrè (Autor), Ettore Piro (Autor), Giovanni Corsello (Autor)
• Formato: Libro
• Publicado: BMC, 2022-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manif...