Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Authors:
Zheng Z; Ding L; Wang M; Zhang Y; Yang Y and 5 more

Journal:
Mol Genet Genomic Med

Publication Year: 2023

DOI:
10.1002/mgg3.2306

PMCID:
PMC10767598

PMID:
37921229

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

Transparency Score
3/6
50.0% Transparent
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"CONFLICT OF INTEREST STATEMENT The authors declare no conflict of interest."

Evidence found in paper:

"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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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025