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Identification of pathogenic variants in six Chinese families with keratoconus of autosomal dominant inheritance: pathogenicity analysis and variable phenotype

Crossref DOI link: https://doi.org/10.1007/s10792-025-03740-x

Published Online: 2025-09-05

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

Authors

Huang, Xiaoyu

Ma, Meijiao

Chen, Xiaofei

Lian, Yuanyuan

Li, Huiping

Sheng, Xunlun
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Text and Data Mining valid from 2025-09-05

Version of Record valid from 2025-09-05
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Article History

Received: 11 January 2025

Accepted: 16 August 2025

First Online: 5 September 2025

Declarations

:

: The authors declare no competing interests.

: Our study, which adhered to the Declaration of Helsinki, was approved and reviewed by the Ethics Committee on Human Research at Gansu Aier Ophthalmology and Optometry Hospital (Approval No. GSAIER2023IRB04). Before participation, written informed consent was received from each participant or their legal guardians.

: Each participant or their legal guardians give informed consent for the material to appear in International Ophthalmology and associated publications without limit on the duration of publication.

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