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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing

Crossref DOI link: https://doi.org/10.1038/s41598-025-87083-8

Published Online: 2025-01-21

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Wu, Xingwu

Xu, Qiang

Chen, Ge

Huang, Jialyv

Zhong, Yanying

Tian, Lifeng

Wu, Qiongfang

Chen, Jia
Funding

Funding for this research was provided by:

Natural Science Foundation of Jiangxi Province (20224BAB216026, 20224BAB206018)

National Natural Science Foundation of China (82160317)
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Text and Data Mining valid from 2025-01-21

Version of Record valid from 2025-01-21
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Article History

Received: 15 July 2024

Accepted: 15 January 2025

First Online: 21 January 2025

Declarations

:

: The authors declare no competing interests.

: The study related to human participants was reviewed and approved by the reproductive medicine ethics committee of Jiangxi maternal and child health hospital. All patients participated in this study were signed written informed consent. The research has been performed in accordance with the Helsinki Declaration.

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