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[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2024

Fan Haizhen, Wang Yanmei, Wu Yunhong, Jia Lifang, Wang Lihong, Shen Yansheng

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. METHODS: Four children with KS diagnosed at the Children's Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified...

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PMID: 38684298
DOI: 10.3760/cma.j.cn511374-20230425-00235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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