A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
Authors
Keywords
Heritable disorders of connective tissue, Classical Ehlers-Danlos syndrome, Congenital hip dysplasia, p.(Arg312Cys) , COL1A1
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