CLN5 in heterozygosis may protect against the development of tumors in a VHL patient

Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it...

Descripción completa

Detalles Bibliográficos
Autores principales: de Rojas-P, Isabel, Albiñana, Virginia, Recio-Poveda, Lucía, Rodriguez-Rufián, Amanda, Cuesta, Ángel M., Botella, Luisa-María
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268215/
https://www.ncbi.nlm.nih.gov/pubmed/32487141
http://dx.doi.org/10.1186/s13023-020-01410-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268215/
https://www.ncbi.nlm.nih.gov/pubmed/32487141
http://dx.doi.org/10.1186/s13023-020-01410-y

Ejemplares similares