Article

Ocular Manifestations in Pediatric Tumor Suppressor Gene Mutations: A Case Series and Literature Review of RB1, NF1, NF2, VHL, and TSC

2025-03-31

Abstract excerpt

<title>Abstract</title> <p>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 uveal tract, including the choroid and iris. The expression of these tumor suppressor gene muta...

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Literature Corpus work: 522d1a74-66ab-5be4-a268-0436c44721f6
DOI: 10.21203/rs.3.rs-5838014/v1

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