Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Neeti Ghali, Duncan Baker, Angela F. Brady, Nigel Burrows, Elena Cervi, Deirdre Cilliers, Michael Frank, Dominique P. Germain, David Hulmes, Marie‐Line Jacquemont,

Genetics in Medicine · 2019 · 24 citations · 30 references

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