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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Autores principales:	Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2023-08-01
Colección:	BMC Ophthalmology
Materias:	PAX6 gene Foveal hypoplasia Anterior segment dysgenesis Symmetrical corectopia
Acceso en línea:	https://doi.org/10.1186/s12886-023-03054-5
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