Unilateral retinocytoma associated with a variant in the RB1 gene

ConclusionsWe 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.

Source: Molecular Genetics & Genomic Medicine - January 28, 2020 Category: Genetics & Stem Cells Authors: Shijing Wu, Xuan Zou, Zixi Sun, Tian Zhu, Xing Wei, Ruifang Sui Tags: CLINICAL REPORT Source Type: research