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

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...

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Autors principals:	Xuejiao Ba, Xiyao Yang, Yizhi Zhang, Fang Guo, Lihong Zhu, Rui Tong, Yanbin Yang, Yuan Qian, Hongqing Zhang
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-11-01
Col·lecció:	Frontiers in Pediatrics
Matèries:	kabuki syndrome congenital heart disease KMT2D gene de novo mutation hyperinsulinemic hypoglycemia
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/full
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