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

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

Abstract 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. Met...

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Bibliografski detalji
Glavni autori: Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao
Format: Članak
Jezik:English
Izdano: BMC 2023-08-01
Serija:BMC Ophthalmology
Teme:
PAX6 gene
Foveal hypoplasia
Anterior segment dysgenesis
Symmetrical corectopia
Online pristup:https://doi.org/10.1186/s12886-023-03054-5

Internet

https://doi.org/10.1186/s12886-023-03054-5

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