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Article

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2022

Owen Nicholas, Toms Maria, Young Rodrigo M, Eintracht Jonathan, Sarkar Hajrah, Brooks Brian P, Moosajee Mariya

Abstract excerpt

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. METHODS: Evolutionarily conserved differentially expressed genes were...

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Identifiers

PMID: 35034853
DOI: 10.1016/j.gim.2021.12.014
PMCID: PMC11505079

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