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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2022
Pynciau:
Cancer Genetics
Mynediad Ar-lein: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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