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Article

Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome.

World neurosurgery - 1 Jun 2021

Zhou Yuhao, Liu Jian, Chu Liangzhao, Dong Minghao, Feng Luqian

Abstract excerpt

OBJECTIVE: Von Hippel-Lindau (VHL) syndrome is a rare disease that occurs in an autosomal-dominant genetic pattern. Due to the high genetic variability of VHL diseases, current studies have limited clinical value. Moreover, casual genetic variations in patients with VHL syndrome are still unclear. METHODS: Here, we performed whole-exome sequencing of 25 individuals to identify reliable disease-related variations....

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PMID: 33774214
DOI: 10.1016/j.wneu.2021.03.089

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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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