Article

First Chinese Cohort with Heterozygous COL9A3 Vitreoretinopathy: Beyond the Skeleton

2025-12-30

Abstract excerpt

<title>Abstract</title> <p> <bold>Purpose:</bold> To delineate the ocular and systemic phenotype of the first Chinese cohort with heterozygous <italic>COL9A3</italic> -related vitreoretinopathy, thereby expanding the genotypic and phenotypic spectrum of <italic>COL9A3</italic> disorders beyond the established skeletal manifestations. <bold>Methods:</bold> Two Chinese families segregating an autosomal domi...

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Literature Corpus work: 0d92172e-2507-5641-b7ac-8a515913b506
DOI: 10.21203/rs.3.rs-8302796/v1

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