Article

Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species

2022-12-22

Abstract excerpt

Ocular coloboma (OC) is a failure of complete optic fissure closure during embryonic development and presents as a tissue defect along the proximal distal axis of the ventral eye. It is classed as part of the clinical spectrum of structural eye malformations with microphthalmia and anophthalmia, collectively abbreviated to MAC. Despite deliberate attempts to identify causative variants in MAC, many patients remain...

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Literature Corpus work: 9ebf43f3-2529-5f5c-a505-cabddebd0f70
DOI: 10.1101/2022.12.22.521600

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