Ghali, Neeti http://orcid.org/0000-0003-2847-1376
Baker, Duncan
Brady, Angela F.
Burrows, Nigel
Cervi, Elena
Cilliers, Deirdre
Frank, Michael
Germain, Dominique P.
Hulmes, David J.S.
Jacquemont, Marie-line
Kannu, Peter
Lefroy, Henrietta
Legrand, Anne
Pope, F. Michael
Robertson, Lisa
Vandersteen, Anthony
von Klemperer, Kate
Warburton, Renarta
Whiteford, Margo
van Dijk, Fleur S.
This article is maintained by: Elsevier
Article Title: Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-019-0470-9
Content Type: article
Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics