Unilateral retinocytoma associated with a variant in the RB1 gene.

Shijing WuXuan ZouZixi SunTian ZhuXing WeiRuifang Sui

Published in: Molecular genetics & genomic medicine (2020)

We report detailed clinical features and genetic analysis of a case with unilateral retinocytoma. Retinocytoma has a wide range of clinical phenotypes; genetic testing is therefore a useful tool for the diagnosis of atypical cases.

Keyphrases

genome wide
copy number
dna methylation
genome wide identification
transcription factor