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Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia

The human fovea is a specialized pit structure in the central retina. Foveal hypoplasia is a condition where the foveal pit does not fully develop, and it is associated with poor vision. Autosomal dominant isolated foveal hypoplasia (FVH1) is a rare condition of foveal hypoplasia (FH) that lacks any...

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Detalles Bibliográficos
Autores principales:	Matsushita, Itsuka, Izumi, Hiroto, Ueno, Shinji, Hayashi, Takaaki, Fujinami, Kaoru, Tsunoda, Kazushige, Iwata, Takeshi, Kiuchi, Yoshiaki, Kondo, Hiroyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379490/ https://www.ncbi.nlm.nih.gov/pubmed/37510387 http://dx.doi.org/10.3390/genes14071483

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