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

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry