Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
Journal Information
Full Title: Mol Genet Genomic Med
Abbreviation: Mol Genet Genomic Med
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTEREST STATEMENT The authors declare no conflict of interest."
"We express our gratitude to the young patients and their families for participating in this project. We also thank two reviewers for helpful comments on an earlier version of this article. The Ningbo Women and Children's Hospital clinicians for taking care of the children and the collection/preservation of tissue samples. This work was supported by grants from: Zhejiang Provincial Medical and Health Science and Technology Program [2023KY292], Science and Technology Development Program of Ningbo [202002N3150, 2022S035], Ningbo Public Welfare Science and Technology Plan Project [2021S100], Ningbo Clinical Research Center for Children's Health and Diseases [2019A21002], and Innovation Project of Distinguished Medical Team in Ningbo [2022020405]."
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Last Updated: Aug 05, 2025