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Article

Intra-familial phenotypic heterogeneity and telomere abnormality in von Hippel-Lindau disease

2019-01-23

Abstract excerpt

Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome with poor survival. The current recommendations have proposed uniform surveillance strategies for all patients, neglecting the obvious phenotypic varieties. In this study, we aim to confirm the phenotypic heterogeneity in VHL disease and the underlying mechanism. A total of 151 parent-child pairs were enrolled for genetic anticipation analysis, and 77...

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Literature Corpus work
dfaecd83-ccd6-562a-9fbe-0e096bf026d7
DOI
10.1101/526913
Open publication

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