Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease

Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease

Von Hippel–Lindau (VHL) disease is a rare autosomal-dominant inherited tumor syndrome. We aimed to analyze the correlations between frequent VHL mutations and phenotypes in Chinese VHL families. We screened 540 patients from 187 unrelated Chinese VHL families for 19 frequent VHL mutations. The penet...

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Bibliographic Details
Main Authors: Baoan Hong, Kaifang Ma, Jingcheng Zhou, Jiufeng Zhang, Jiangyi Wang, Shengjie Liu, Zhongyuan Zhang, Lin Cai, Ning Zhang, Kan Gong
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Genetics
Subjects:
von Hippel–Lindau disease
VHL mutation
genotype–phenotype correlation
onset age
survival
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00867/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00867/full

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