Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome - Li, Wen; Lin, Mengjie; Dao, Jinwei; Shi, Li; Yi, Wei; Lei, Jia; Song, Yaxian; Dong, Jiaolou; Zhao, Meiwei; Xu, Yushan; Chen, Lulu (Frontiers in Genetics, 2025)