Electron Microscopy in the diagnosis of Ehlers-Danlos Syndromes; correlation with clinical and genetic investigations.

CONCLUSIONS: TEM analysis of collagen structure may hold potential to provide evidence for or against the pathogenicity of a VUS but more work is needed to establish a clear role for TEM in this process. This article is protected by copyright. All rights reserved. PMID: 31141158 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31141158?dopt=Abstract

Source: The British Journal of Dermatology - May 28, 2019 Category: Dermatology Authors: Angwin C, Ghali N, Baker D, Brady AF, Pope FM, Vandersteen A, Wagner B, Ferguson DJP, van Dijk FS Tags: Br J Dermatol Source Type: research