Article

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

2024-12-27

Abstract excerpt

<h4>Purpose: </h4> To explore the ocular manifestations associated with mutations in key tumor suppressor genes mutations (RB1, NF1, NF2, VHL, TSC1/2) in children, emphasizing their significance in pediatric hereditary cancer syndromes. These mutations are associated with common pediatric ocular tumors, presenting as space-occupying lesions in the retina and uveal tract (including the choroid and iris). <h4>Metho...

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Literature Corpus work: 0b3afa3e-f4f2-50fb-9cd2-1115b604ad1f
DOI: 10.22541/au.173533942.26903490/v1

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