Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China

Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China

AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1 (FBN1) gene responsible for congenital ectopia lentis (EL) in two Chinese families in northern China. METHODS: A detailed family history and clinical data from all participants were collected by clinical e...

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Bibliographic Details
Main Authors: Su-Zhen Tang, Ya-Ning Liu, Shao-Hua Hu, Hao Chen, Hui Zhao, Xue-Mei Feng, Xiao-Jing Pan, Peng Chen
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2019-11-01
Series:International Journal of Ophthalmology
Subjects:
congenital ectopia lentis
autosomal dominant
targeted next-generation sequencing
fbn1
fibrillin-1
Online Access:http://www.ijo.cn/en_publish/2019/11/20191102.pdf

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