Seong MW

ORCID: 0000-0003-2954-3677 · 1 paper in corpus
2016
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
BMC medical genetics ·doi:10.1186/s12881-016-0306-2

Backgroundvon Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, retina, kidney, adre…