VHL mosaicism: the added value of multi-tissue analysis

Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms. A germline VHL variant is identified in 95–100% of individuals with a clinical diagnosis of VHL. Here, we present the case...

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Detalles Bibliográficos
Autores principales: Oldfield, Leslie E., Grzybowski, Jessica, Grenier, Sylvie, Chao, Elizabeth, Downs, Gregory S., Farncombe, Kirsten M., Stockley, Tracy L., Mete, Ozgur, Kim, Raymond H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933488/
https://www.ncbi.nlm.nih.gov/pubmed/35304467
http://dx.doi.org/10.1038/s41525-022-00291-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933488/
https://www.ncbi.nlm.nih.gov/pubmed/35304467
http://dx.doi.org/10.1038/s41525-022-00291-3

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