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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2022
Soggetti:
Cancer Genetics
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi