De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family

De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family

AIM: To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32. METHODS: A family with familial exudative vitreoretinopathy (FEVR) phenotype was included in the study. Whole-exome sequencing (WES) was initially used to locat...

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Bibliographic Details
Main Authors: Shuang Zhang, Hai-Ming Yong, Gang Zou, Mei-Jiao Ma, Xue Rui, Shang-Ying Yang, Xun-Lun Sheng
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-12-01
Series:International Journal of Ophthalmology
Subjects:
familial exudative vitreoretinopathy
copy number variation
copy number deletion
tspan12
long-read sequencing
Online Access:http://ies.ijo.cn/en_publish/2023/12/20231206.pdf

Internet

http://ies.ijo.cn/en_publish/2023/12/20231206.pdf

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