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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Document Type
Article
Author
Ghali, N.; Brady, A.F.; van Dijk, F.S.; Baker, D.; Warburton, R.; Burrows, N.; Cervi, E.; Cilliers, D.; Lefroy, H.; Frank, M.; Germain, D.P.; Hulmes, D.J.S.; Jacquemont, M.-L.; Kannu, P.; Legrand, A.; Pope, F.M.; Robertson, L.; Vandersteen, A.; von Klemperer, K.; Whiteford, M.
Source
In: Genetics in Medicine. (Genetics in Medicine, 1 September 2019, 21(9):2081-2091)
Subject
Language
English
ISSN
15300366
10983600

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