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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Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2022
Gaiak:
Cancer Genetics
Sarrera elektronikoa: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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