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A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders

Crossref DOI link: https://doi.org/10.1186/s12920-025-02248-8

Published Online: 2025-10-29

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

Authors

Chen, Qi

Shi, Lin

Zhu, Xiaolan
Funding

Funding for this research was provided by:

National Natural Science Foundation of China (82203146, 82172838)

the Healthy committee project of Jiangsu province (M2022008)

Clinical Medical Research Center for Obstetrics and Gynecology Disease of Zhenjiang (SS2022003)
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Text and Data Mining valid from 2025-10-29

Version of Record valid from 2025-10-29
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Article History

Received: 28 June 2025

Accepted: 1 October 2025

First Online: 29 October 2025

Declarations

:

: The study was conducted in accordance to the Declaration of Helsinki and was approved by Ethics Committee of Fourth affiliated hospital of Jiangsu University. All participants agreed to participate in the study and provided signed informed consent. Written informed consent to participate has been obtained from all the participants and the parents/legal guardians of minors.

: Not applicable.

: The authors declare no competing interests.

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