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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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Lan, Xiaoping, Xu, Wuhen, Tang, Xiaojun, Ye, Haiyun, Song, Xiaozhen, Lin, Longlong, Ren, Xiang, Yu, Guangjun, Zhang, Hong, Wu, Shengnan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2020
Schlagworte:
Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7080181/
https://ncbi.nlm.nih.gov/pubmed/32218800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00142
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