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Article

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

BMC pediatrics - 26 Feb 2025

Wang Yanan, Chang Yujie, Lei Hongtao, Yan Weiyan, Chai Yuqiong, Zang Weiwei

Abstract excerpt

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 in a Chinese family, which will be helpful for genetic counseling and clinical diagnosis. CASE PRESENTATION: We collected a...

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Source

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Identifiers

PMID: 40011896
DOI: 10.1186/s12887-025-05508-9
PMCID: PMC11863797

Genes

CTNNB1
CNGA1
FBN2
NIPBL

Variants

Provenance

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Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.PMID 40011896Read ↗

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