Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Ghali, Neeti, 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, LefroyJournal:
Genetics in Medicine
DOI:
10.1038/s41436-019-0470-9
Date:
March, 2019
File:
PDF, 776 KB
2019
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