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

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
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
Series:Frontiers in Genetics
Subjects:
retinoblastoma
RB1
germline mutations
large deletion/duplication
clinical features
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00142/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00142/full

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