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May 10, 2024

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

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

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Abstract

To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene.

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Cite This Study

Fan et al. (2024) studied this question.

synapsesocial.com/papers/68e6ab39b6db64358762e002 https://doi.org/10.3760/cma.j.cn511374-20230425-00235

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1[Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene].2024
2Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome2024
3Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review2024 · 6 citations
4A Novel De Novo KMT2D Genetic Variant in Kabuki Syndrome: A Case ReportCase Report · 2026
5[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review].2025 · 1 citations