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Familial and genetic researches on three Chinese families with von Hippel-Lindau disease.

Neurological research - 1 Sept 2009

Mao Xiao-Chun, Su Zhi-Peng, Yu Wen-Qiao, Zheng Wei-Ming, Zeng Yan-Jun

Abstract excerpt

OBJECTIVE: Hemangioblastoma of the central nervous system (CNS) occur as sporadic tumors or as a part of von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary tumor syndrome caused by germline mutation of the VHL tumor suppressor gene. This study shows the clinical characteristics of three large Chinese families with VHL disease and evaluates the consequence of the genetic test for the diagnosis of...

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Source

Identifiers

PMID: 19133167
DOI: 10.1179/174313209X382421

Genes

VHL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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