Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients

Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients

Abstract Background Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple cysts in the pancreas and kidneys, renal carcinoma, and pheochromocytom...

Full description

Bibliographic Details
Main Authors: Antonio Alejandro Esperón Álvarez, Inés Virginia Noa Hechavarría, Ixchel López Reyes, Teresa Collazo Mesa
Format: Article
Language:English
Published: SpringerOpen 2024-03-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Von Hippel-Lindau syndrome
VHL gene
VHL protein
Genetic testing
Mutations
Online Access:https://doi.org/10.1186/s43042-024-00506-5

Internet

https://doi.org/10.1186/s43042-024-00506-5

Similar Items