Arteriovenous malformation associated with a HRAS mutation
Abstract
The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.Thr58_Ala59delinsValLeuAspVal). Mutant allelic frequency was 5% in whole tissue and 31% in isolated endothelial cells (ECs); the...
Paper Details
Title
Arteriovenous malformation associated with a HRAS mutation
Published Date
Oct 21, 2019
Journal
Volume
138
Issue
11-12
Pages
1419 - 1421
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Notes
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