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Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement

PURPOSE: Foveal hypoplasia (FVH) is defined as the lack of fovea with a relatively preserved neuroretina, occurring either as an isolated FVH (IFVH) condition or associated with other diseases. This study aimed to systemically molecularly characterize IFVH. METHODS: Genetic defects in 33 families wi...

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Detalles Bibliográficos
Autores principales:	Jiang, Yi, Li, Shiqiang, Xiao, Xueshan, Sun, Wenmin, Zhang, Qingjiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383911/ https://www.ncbi.nlm.nih.gov/pubmed/34415986 http://dx.doi.org/10.1167/iovs.62.10.23

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