Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC

Abstract Background This study explores ocular manifestations in children with mutations in key tumor suppressor genes (RB1, NF1, NF2, VHL, TSC1/2), which are linked to common pediatric hereditary cancer syndromes. Mutations in these genes often lead to ocular lesions, particularly in the retina and...

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Bibliographic Details
Main Authors: Aoxiang Wang, Chanyuan Wang, Wen Li, Jing Qiao, Yulin Luo, Yu Tian
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Pediatrics
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Online Access:https://doi.org/10.1186/s12887-025-05694-6
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