Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma

Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations in the RB transcriptional corepressor 1 (RB1) gene. Genetic testing forms the basis of genetic counseling for affected families, as well as for clinical managem...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Xiaoping Lan, Wuhen Xu, Xiaojun Tang, Haiyun Ye, Xiaozhen Song, Longlong Lin, Xiang Ren, Guangjun Yu, Hong Zhang, Shengnan Wu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2020-03-01
Subjects:	retinoblastoma RB1 germline mutations large deletion/duplication clinical features
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2020.00142/full