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

Human genomics - 1 Mar 2025

Liu Yan, Sun Yang, Huo Qiuyi, Song Linghao, Wang Xinyue, Shen Xin, Zhao Ye, Chen Tianhui, Jiang Yongxiang

Abstract excerpt

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: Patients diagnosed with MSP at the Eye and ENT Hospital of Fudan University, Shanghai, were included in the study and all...

Topics

Humans
Male
Female
Ectopia Lentis
Fibrillin-1
Mutation
Middle Aged
Adult
Genetic Association Studies
Biometry
ADAMTS Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iris

Aged

High-Throughput Nucleotide Sequencing

Cohort Studies

Myopia

Phenotype

Adipokines

Source

Open in PubMed Open full text

Identifiers

PMID: 40025527
DOI: 10.1186/s40246-025-00729-6
PMCID: PMC11872324

Genes

FBN1
ACD
ADAMTS17
ADAMTSL4
ASPH
CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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