Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report

Abstract Background Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population. This study will provide a case of FEVR due to CTNNB1 splice mutation...

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Bibliographic Details

Published in:	BMC Pediatrics
Main Authors:	Yanan Wang, Yujie Chang, Hongtao Lei, Weiyan Yan, Yuqiong Chai, Weiwei Zang
Format:	Article
Language:	English
Published:	BMC 2025-02-01
Subjects:	CTNNB1 gene De novo mutation Familial exudative vitreoretinopathy Minigene technology
Online Access:	https://doi.org/10.1186/s12887-025-05508-9