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Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family

Background: Congenital cataract is a common cause of blindness in childhood. About half of the cases have a genetic etiology, and more than 100 genes have been associated with congenital cataracts. This study reports the clinical and genetic findings of a two-generation Chinese family affected by co...

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Detalles Bibliográficos
Autores principales: Sheng, Dan, Yang, Duo, Xie, Wanqin, Li, Mojiang, Zhong, Liqin, Zhao, Shuangxi, Liang, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957680/
https://www.ncbi.nlm.nih.gov/pubmed/36843716
http://dx.doi.org/10.7759/cureus.34208