Article
Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic <i>CPAMD8</i> variants
2018-04-09
Abstract excerpt
<h4>Purpose</h4> Congenital glaucoma is a significant cause of irreversible blindness. In some instances glaucoma is associated with developmental abnormalities of the ocular anterior segment, which can impair drainage of aqueous humor, leading to an increase in intraocular pressure. <h4>Methods</h4> Genome sequencing was performed on a parent-proband congenital glaucoma trio, with exome sequencing of 79 additio...
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Identifiers and source
- Literature Corpus work
- 5412fb6c-13c0-5a30-bb8f-e24ec16a5289
- DOI
- 10.1101/297077
