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Article

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.

Ophthalmic genetics - 1 Aug 2022

DeYoung Charles, Guan Bin, Ullah Ehsan, Blain Delphine, Hufnagel Robert B, Brooks Brian P

Abstract excerpt

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 to uveal coloboma. We present the clinical features and genetic basis of a one-year-old male with bilateral uveal colobomata. MATERIALS AND METHODS: Clinical features were gathered from an...

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Identifiers

PMID: 35318877
DOI: 10.1080/13816810.2022.2028299
PMCID: PMC11610107

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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