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Article

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Ophthalmic genetics - 1 Apr 2022

Zou Gang, Qi Rui, Ma Meijiao, Fu Shangyi, Liang Qingnan, Bi Xiaojun, Wang Chanjuan, Hu Xuejun, Cai Yujuan, Sheng Xunlun

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a group of inherited eye diseases characterized by premature arrest of retinal vessel development. The purpose of our study was to characterize the genetic causes and clinical features in eight Chinese families with FEVR using next-generation sequencing (NGS) technology. MATERIALS AND METHODS: Eight families with FEVR were included in genetic and clinical...

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Identifiers

PMID: 34738848
DOI: 10.1080/13816810.2021.1998555

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