Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort

Abstract Aims The aim of this study is to elucidate the genetic landscape of microspherophakia (MSP) and describe the genotype-phenotype correlation of MSP. Additionally, the study seeks to enhance the understanding of the pathogenic mechanisms of MSP through the discovery of novel loci. Methods Pat...

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Bibliographic Details
Main Authors: Yan Liu, Yang Sun, Qiuyi Huo, Linghao Song, Xinyue Wang, Xin Shen, Ye Zhao, Tianhui Chen, Yongxiang Jiang
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Human Genomics
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Online Access:https://doi.org/10.1186/s40246-025-00729-6
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