Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/12556
Title: Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?
Authors: Russell, Nicholas;Delatycki, Martin B;Grossmann, Mathis
Affiliation: Department of Endocrinology, Austin Health, Heidelberg, VIC, Australia.
Issue Date: 2-Jan-2015
Citation: Clinical Endocrinology 2015; 83(1): 15-9
Abstract: A 23-year-old woman with metastatic phaeochromocytoma was found to have a previously unclassified variant in the von Hippel Lindau disease gene (c.361G>C). We use this case to highlight the issue of unclassified single nucleotide variants and the approaches to help predict whether they are disease causing or neutral. With increasing use of genetic testing, and widespread clinical use of next-generation sequencing around the corner, this issue is likely to become more prominent.
Internal ID Number: 25557216
URI: http://ahro.austin.org.au/austinjspui/handle/1/12556
DOI: 10.1111/cen.12710
URL: http://www.ncbi.nlm.nih.gov/pubmed/25557216
Type: Journal Article
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.