Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8645530 | Gene | 2018 | 13 Pages |
Abstract
This case evidently demonstrates the advantage of whole exome sequencing compared to single gene testing as the pathology in the CECR1 gene might have only been diagnosed after the occurrence of signs of systemic vasculitis like strokes or hemorrhages. Therefore, treatment and prevention can now start early to improve the outcome of these patients.
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Authors
Roman Günthner, Matias Wagner, Tobias Thurm, Sabine Ponsel, Julia Höfele, Bärbel Lange-Sperandio,