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Article

Mosaicism in von Hippel-Lindau disease with severe renal manifestations.

Clinical genetics - 1 Dec 2013

Wu P, Zhang N, Wang X, Li T, Ning X, Bu D, Gong K

Abstract excerpt

von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection of mosaic germline...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23384228
DOI: 10.1111/cge.12092

Genes

VHL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mosaicism in von Hippel-Lindau disease with severe renal manifestations.PMID 23384228Read ↗

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