Dallagnol TN

ORCID: 0000-0001-9616-7064 · 1 paper in corpus

2023

Comprehensive characterization and building of National Registry of von Hippel-Lindau disease in Brazil.

Molecular genetics & genomic medicine ·doi:10.1002/mgg3.2136

BackgroundVon Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromoc…