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Article

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Clinical genetics - 1 Nov 2020

Reis Linda M, Basel Donald, McCarrier Julie, Weinberg David V, Semina Elena V

Abstract excerpt

Ocular coloboma is caused by failure of optic fissure closure during development and recognized as part of the microphthalmia, anophthalmia, and coloboma (MAC) spectrum. While many genes are known to cause colobomatous microphthalmia, relatively few have been reported in coloboma with normal eye size. Genetic analysis including trio exome sequencing and Sanger sequencing was undertaken in a family with two...

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PMID: 32729136
DOI: 10.1111/cge.13824
PMCID: PMC8341436

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