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Article

A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.

Cancer investigation - 1 Jul 2008

Rich Thereasa A, Jonasch Eric, Matin Surena, Waguespack Steven G, Gombos Dan S, Santarpia Libero, Stolle Catherine, Jimenez Camilo

Abstract excerpt

Von Hippel Lindau disease is a common cause of apparently sporadic pheochromocytomas. Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the beta -domain of the VHL protein (pVHL). The nearly asymptomatic patient's father also...

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Source

Identifiers

PMID: 18584357
DOI: 10.1080/07357900701802527

Genes

VHL

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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