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Detection of large genomic deletions of FBN1 and confirmation of breakpoints in Marfan syndrome patients with negative results in next-generation sequencing

Crossref DOI link: https://doi.org/10.1186/s12920-026-02421-7

Published Online: 2026-07-27

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

Authors

Li, Jinjie

Zhang, Quanzeng

Zhu, Lin

Diao, Yanjun

Yang, Liu

Liu, Jiayun
Funding

Funding for this research was provided by:

National Key Research and Development Program of China (2022YFC2603705)

Key Research and Development Program of Shaanxi (2022ZDLSF01-06)
License Information

Text and Data Mining valid from 2026-07-27

Accepted Manuscript valid from 2026-07-27
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Article History

Received: 21 November 2025

Accepted: 22 June 2026

First Online: 27 July 2026

Declarations

Ethics approval and consent to participate: This study is compliant with the Declaration of Helsinki. The study was approved by the ethics committee of Xijing Hospital and were carried out in accordance with the approved guidelines (KY20202095-F-1). Each individual undergoing the genetic test was adequately informed regarding the benefits and risks of the test and signed the consent form.

Consent for publication: Not applicable.

Competing interests: The authors declare no competing interests.

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