A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

June Duong, Andrea L. Rideout, Sara MacKay, Jill Beis, Sandhya Parkash, Ulrike Schwarze, S. Gabrielle Horne, Anthony Vandersteen

European Journal of Medical Genetics · 2019 · 15 citations · 20 references

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