AUTHOR=Li Wen , Lin Mengjie , Dao Jinwei , Shi Li , Yi Wei , Lei Jia , Song Yaxian , Dong Jiaolou , Zhao Meiwei , Xu Yushan , Chen Lulu 

TITLE=Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome

JOURNAL=Frontiers in Genetics

VOLUME=16

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1523228

DOI=10.3389/fgene.2025.1523228

ISSN=1664-8021