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

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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Bibliographic Details
Main Authors: Xuejiao Ba, Xiyao Yang, Yizhi Zhang, Fang Guo, Lihong Zhu, Rui Tong, Yanbin Yang, Yuan Qian, Hongqing Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Pediatrics
Subjects:
kabuki syndrome
congenital heart disease
KMT2D gene
de novo mutation
hyperinsulinemic hypoglycemia
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/full
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