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Article

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Blood - 9 May 2013

Lanikova Lucie, Lorenzo Felipe, Yang Chunzhang, Vankayalapati Hari, Drachtman Richard, Divoky Vladimir, Prchal Josef T

Abstract excerpt

Germline von Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome comprising a predisposition for renal cell carcinoma, pheochromocytoma/paraganglioma, cerebral hemangioblastoma, and endolymphatic sac tumors. However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3' VHL gene mutations in exon 3. It...

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Source

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Identifiers

PMID: 23538339
DOI: 10.1182/blood-2012-11-469296
PMCID: PMC3976221

Genes

VHL
RUNX1

Variants

Provenance

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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