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

RheumatologyMendelian DisorderAutoimmune DiseaseGenetic DisorderMild Bone FragilityP.arg312cys MutationPathologyClassical Ehlers-danlos SyndromeDisease Gene IdentificationMedicineOsteoporosisOrthopaedic SurgeryConnective Tissue Disease