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Article

Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.

Endocrine - 1 Feb 2015

Zhang Min, Wang Jie, Jiang Jingjing, Zhan Xiaohui, Ling Yan, Lu Zhiqiang, Guo Jianming, Gao Xin

Abstract excerpt

Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the synonymous VHL gene encoding a tumor suppressor. Affected individuals are susceptible to various benign and malignant tumors. Based on the phenotypes, VHL disease is classified as type 1 and type 2. Here, we describe a Chinese family diagnosed as VHL disease type 2, with different metabolic status of tumors on...

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Source

Identifiers

PMID: 25069792
DOI: 10.1007/s12020-014-0368-x

Genes

VHL

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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