Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants

The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD), progressive corneal opacification, glaucoma, and hypoplasia of the fovea and optic nerve, leading...

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Detalles Bibliográficos
Autores principales: Huang, Lijuan, Peng, Jiajia, Xie, Yan, Zhou, Yunyu, Wang, Xiaolin, Wang, Hui, Gui, Jingang, Li, Ningdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934858/
https://www.ncbi.nlm.nih.gov/pubmed/36816037
http://dx.doi.org/10.3389/fgene.2023.1011060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934858/
https://www.ncbi.nlm.nih.gov/pubmed/36816037
http://dx.doi.org/10.3389/fgene.2023.1011060

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