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Article

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.

BMC ophthalmology - 8 Aug 2023

Yu Yanping, Jia Hongyan, Ma Qian, Zhang Ranran, Jiao Yonghong

Abstract excerpt

BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree. METHODS: Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic...

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Identifiers

PMID: 37553561
DOI: 10.1186/s12886-023-03054-5
PMCID: PMC10408164

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