optic fissure

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Purpose: Ocular coloboma arises from genetic or environmental perturbations that inhibit optic fissure (OF) fusion during early eye development. Despite high genetic heterogeneity, 70% to 85% of patients remain molecularly undiagnosed. In this study, we have identified new potential causative genes using cross-species comparative meta-analysis.
Nicholas Owen, M Toms, RM Young, J Eintracht, H Sarkar, BP Brooks, M Moosajee, Genomics England Research Consortium
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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Transcriptome profiling of zebrafish optic fissure fusion
Incomplete fusion of the optic fissure leads to ocular coloboma, a congenital eye defect that affects up to 7.5 per 10,000 births and …
R Richardson, Nicholas Owen, M Toms, R Young, D Tracey-White, M Moosajee
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