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Article

Unilateral retinocytoma associated with a variant in the RB1 gene.

Molecular genetics & genomic medicine - 1 Apr 2020

Wu Shijing, Zou Xuan, Sun Zixi, Zhu Tian, Wei Xing, Sui Ruifang

Abstract excerpt

BACKGROUND: Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Ophthalmoscopic features can include a translucent retinal mass, calcification, retinal pigment epithelial alteration and chorioretinal atrophy. METHODS: Detailed ophthalmological examinations were performed in a Chinese patient with retinocytoma and his daughter with bilateral retinoblastoma. Sanger sequencing was...

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Identifiers

PMID: 31997559
DOI: 10.1002/mgg3.1156
PMCID: PMC7196460

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