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

• Main Authors: Gregorio Serra (Author), Sofia Felice (Author), Vincenzo Antona (Author), Maria Rita Di Pace (Author), Mario Giuffrè (Author), Ettore Piro (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...