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Article

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 - 20 Jul 2016

Lee Jee-Soo, Lee Ji-Hyun, Lee Kyu Eun, Kim Jung Hee, Hong Joon Mo, Ra Eun Kyung, Seo Soo Hyun, Lee Seung Jun, Kim Man Jin, Park Sung Sup, Seong Moon-Woo

Abstract excerpt

BACKGROUND: von 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, adrenal gland, and pancreas. The genotype-phenotype correlation has not been well characterized in the Korean population so far. Therefore, this study aimed to evaluate the VHL...

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Source

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Identifiers

PMID: 27439424
DOI: 10.1186/s12881-016-0306-2
PMCID: PMC4955248

Genes

VHL

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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