Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation

• Hauptverfasser: Xuejiao Ba (Verfasst von), Xiyao Yang (Verfasst von), Yizhi Zhang (Verfasst von), Fang Guo (Verfasst von), Lihong Zhu (Verfasst von), Rui Tong (Verfasst von), Yanbin Yang (Verfasst von), Yuan Qian (Verfasst von), Hongqing Zhang (Verfasst von)
• Format: Buch
• Veröffentlicht: Frontiers Media S.A., 2024-11-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

BackgroundKabuki syndrome is a genetic syndrome that affects multiple organs and systems. Gene mutations are the main cause of KS. Mutations in the KMT2D and KDM6A genes have been reported as two relatively clear pathogenic pathways. This article reports a case of KS with congenital heart disease, h...