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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Cancer Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080673/
https://www.ncbi.nlm.nih.gov/pubmed/33067352
http://dx.doi.org/10.1136/jmedgenet-2020-107308

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080673/
https://www.ncbi.nlm.nih.gov/pubmed/33067352
http://dx.doi.org/10.1136/jmedgenet-2020-107308

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