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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Vydáno v:Mol Vis
Hlavní autoři: Sun, Zixi, Zhou, Qi, Li, Huajin, Yang, Lizhu, Wu, Shijing, Sui, Ruifang
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2017
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5757854/
https://ncbi.nlm.nih.gov/pubmed/29386872
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