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

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: Op...

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Detalles Bibliográficos
Autores principales: Yu, Yanping, Jia, Hongyan, Ma, Qian, Zhang, Ranran, Jiao, Yonghong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10408164/
https://www.ncbi.nlm.nih.gov/pubmed/37553561
http://dx.doi.org/10.1186/s12886-023-03054-5

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