De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia
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DOI: 10.1080/13816810.2022.2028299
Abstract: ABSTRACT Background Uveal colobomata are eye defects that result from failure of the optic fissure of the neuroectoderm-derived optic cup to close between weeks 5–7 of fetal life. Mutations in YAP1 have previously been linked… read more here.
Keywords: uveal coloboma; mutation yap1; bilateral uveal; mutation ... See more keywords