Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities

PURPOSE: This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities. METHODS: Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detail...

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Detalles Bibliográficos
Autores principales: Sun, Zixi, Zhou, Qi, Li, Huajin, Yang, Lizhu, Wu, Shijing, Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757854/
https://www.ncbi.nlm.nih.gov/pubmed/29386872

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