Article

Disruption of <i>ADAMTSL4</i> Causes Ectopia Pupillae in Zebrafish via COL8A1-Driven Cell Migration

2025-11-04

Abstract excerpt

Congenital ectopia lentis (EL) poses a significant threat to visual outcomes in children. Although emerging causative genes have been identified, their biological functions remain poorly understood. In this study, we investigated the contribution of ADAMTSL4 variants to congenital EL in a cohort of 702 pedigrees. Pathogenic variants in ADAMTSL4 were identified in 23 probands (3.28%), comprising 29 distinct varia...

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Literature Corpus work: 43631475-66e5-534a-9457-6464b2e243c5
DOI: 10.1101/2025.11.03.686242

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