A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary tumour susceptibility disease caused by germline pathogenic variation of the VHL tumour suppressor gene. Affected individuals are at risk of developing multiple malignant and benign tumours in a number of organs. In this report, a m...

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Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: Ricketts, Christopher J, Vocke, Cathy D, Lang, Martin, Chen, Xiongfong, Zhao, Yongmei, Tran, Bao, Tandon, Mayank, Schmidt, Laura S, Ball, Mark W, Linehan, W Marston
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2022
Teme:
Cancer Genetics
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8080673/
https://ncbi.nlm.nih.gov/pubmed/33067352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107308
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