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[Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Shen Yu, Sun Shuni, Xie Min, Li Haibo, Xu Limin

Abstract excerpt

OBJECTIVE: To report on two children with Kabuki syndrome due to variants of the KMT2D gene and summarize their clinical and genetic characteristics. METHODS: Two children who had presented at the Ningbo Women and Children's Hospital respectively on August 19 and November 10, 2021 were selected as the study subjects. Clinical data were collected. Both children were subjected to whole exome sequencing (WES), and...

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PMID: 37368385
DOI: 10.3760/cma.j.cn511374-20220606-00391

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